Mutation - TCGA Type Chromosome Start Position End Position Strand Variant Classification Variant Type Reference Allele Tumor_seq Allele 1 Tumor_seq Allele 2 Tumor Sample Barcode Matched Norm Sample Barcode Genome Change cDNA Change Codon Change Protein Change BLCA 19 41083150 41083150 + Missense_Mutation SNP C C G TCGA-ZF-A9RN-01A-11D-A42E-08 TCGA-ZF-A9RN-10A-01D-A42H-08 g.chr19:41083150C>G c.100C>G c.(100-102)Cgc>Ggc p.R34G BLCA 19 41083167 41083167 + Nonsense_Mutation SNP G G A TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 g.chr19:41083167G>A c.117G>A c.(115-117)tgG>tgA p.W39* BLCA 19 41086561 41086561 + Splice_Site SNP A A G TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 g.chr19:41086561A>G c.652A>G c.(652-654)Agg>Ggg p.R218G BLCA 19 41086747 41086747 + Missense_Mutation SNP G G A TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 g.chr19:41086747G>A c.749G>A c.(748-750)gGg>gAg p.G250E BLCA 19 41088265 41088265 + Missense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 g.chr19:41088265C>T c.853C>T c.(853-855)Cat>Tat p.H285Y BLCA 19 41094536 41094536 + Missense_Mutation SNP C C T TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 g.chr19:41094536C>T c.1343C>T c.(1342-1344)gCc>gTc p.A448V BLCA 19 41096303 41096303 + Silent SNP C C T TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 g.chr19:41096303C>T c.1743C>T c.(1741-1743)gcC>gcT p.A581A BLCA 19 41096959 41096959 + Missense_Mutation SNP G G T TCGA-DK-A6AW-01A-11D-A30E-08 TCGA-DK-A6AW-10A-01D-A30H-08 g.chr19:41096959G>T c.1970G>T c.(1969-1971)cGc>cTc p.R657L BLCA 19 41097017 41097017 + Silent SNP C C T TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 g.chr19:41097017C>T c.2028C>T c.(2026-2028)gaC>gaT p.D676D BRCA 19 41084069 41084069 + Silent SNP C C T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 g.chr19:41084069C>T c.270C>T c.(268-270)caC>caT p.H90H BRCA 19 41092756 41092756 + Missense_Mutation SNP G G T TCGA-E2-A15I-01A-21D-A135-09 TCGA-E2-A15I-10A-01D-A135-09 g.chr19:41092756G>T c.1242G>T c.(1240-1242)gaG>gaT p.E414D BRCA 19 41094607 41094607 + Missense_Mutation SNP A A C TCGA-A2-A0T5-01A-21D-A099-09 TCGA-A2-A0T5-10A-01D-A099-09 g.chr19:41094607A>C c.1414A>C c.(1414-1416)Acc>Ccc p.T472P BRCA 19 41095083 41095083 + Splice_Site SNP C C T TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 g.chr19:41095083C>T c.1588C>T c.(1588-1590)Cgg>Tgg p.R530W CESC 19 41083465 41083465 + Silent SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 g.chr19:41083465C>T c.189C>T c.(187-189)atC>atT p.I63I CESC 19 41083468 41083468 + Silent SNP C C T TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 g.chr19:41083468C>T c.192C>T c.(190-192)ttC>ttT p.F64F CESC 19 41083468 41083468 + Silent SNP C C T TCGA-FU-A5XV-01A-11D-A28B-09 TCGA-FU-A5XV-10A-01D-A28E-09 g.chr19:41083468C>T c.192C>T c.(190-192)ttC>ttT p.F64F CESC 19 41094630 41094630 + Missense_Mutation SNP C C G TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 g.chr19:41094630C>G c.1437C>G c.(1435-1437)atC>atG p.I479M CESC 19 41096211 41096211 + Missense_Mutation SNP G G A TCGA-C5-A7CK-01A-11D-A32I-09 TCGA-C5-A7CK-10A-01D-A32I-09 g.chr19:41096211G>A c.1651G>A c.(1651-1653)Gag>Aag p.E551K CHOL 19 41086736 41086736 + Silent SNP G G T TCGA-4G-AAZT-01A-11D-A417-09 TCGA-4G-AAZT-10A-01D-A41A-09 g.chr19:41086736G>T c.738G>T c.(736-738)cgG>cgT p.R246R CHOL 19 41088331 41088331 + Missense_Mutation SNP G G A TCGA-ZD-A8I3-01A-11D-A417-09 TCGA-ZD-A8I3-10A-01D-A41A-09 g.chr19:41088331G>A c.919G>A c.(919-921)Ggg>Agg p.G307R COAD 19 41083523 41083523 + Nonsense_Mutation SNP G G T TCGA-AA-3977-01A-01W-0995-10 TCGA-AA-3977-10A-01W-0999-10 g.chr19:41083523G>T c.247G>T c.(247-249)Gag>Tag p.E83* COAD 19 41086317 41086317 + Missense_Mutation SNP C C T TCGA-D5-6928-01A-11D-1924-10 TCGA-D5-6928-10A-01D-1924-10 g.chr19:41086317C>T c.488C>T c.(487-489)aCg>aTg p.T163M COAD 19 41086793 41086793 + Silent SNP C C T TCGA-AA-3492-01A-01D-1408-10 TCGA-AA-3492-11A-01D-1408-10 g.chr19:41086793C>T c.795C>T c.(793-795)agC>agT p.S265S COAD 19 41088331 41088331 + Missense_Mutation SNP G G T TCGA-AA-3833-01A-01W-0900-09 TCGA-AA-3833-10A-01W-0900-09 g.chr19:41088331G>T c.919G>T c.(919-921)Ggg>Tgg p.G307W COAD 19 41089372 41089372 + Silent SNP C C T TCGA-A6-4105-01A-02D-1771-10 TCGA-A6-4105-10A-01D-1771-10 g.chr19:41089372C>T c.1029C>T c.(1027-1029)aaC>aaT p.N343N COAD 19 41092706 41092706 + Missense_Mutation SNP G G A TCGA-D5-6928-01A-11D-1924-10 TCGA-D5-6928-10A-01D-1924-10 g.chr19:41092706G>A c.1192G>A c.(1192-1194)Gcc>Acc p.A398T COAD 19 41095063 41095063 + Missense_Mutation SNP G G A TCGA-A6-6781-01A-22D-1924-10 TCGA-A6-6781-10A-01D-1924-10 g.chr19:41095063G>A c.1568G>A c.(1567-1569)cGt>cAt p.R523H COAD 19 41096183 41096183 + Silent SNP C C T TCGA-AD-6895-01A-11D-1924-10 TCGA-AD-6895-10A-01D-1924-10 g.chr19:41096183C>T c.1623C>T c.(1621-1623)ccC>ccT p.P541P COAD 19 41096635 41096635 + Splice_Site SNP G G C TCGA-CM-6171-01A-11D-1650-10 TCGA-CM-6171-10A-01D-1650-10 g.chr19:41096635G>C c.e17-1 COAD 19 41096696 41096696 + Missense_Mutation SNP C C T TCGA-AA-3854-01A-01W-0900-09 TCGA-AA-3854-10A-01W-0900-09 g.chr19:41096696C>T c.1829C>T c.(1828-1830)cCg>cTg p.P610L COAD 19 41096736 41096737 + Frame_Shift_Ins INS - - A TCGA-A6-6781-01A-22D-1924-10 TCGA-A6-6781-10A-01D-1924-10 g.chr19:41096736_41096737insA c.1869_1870insA c.(1870-1872)tcafs p.S624fs COAD 19 41096749 41096749 + Missense_Mutation SNP T T A TCGA-D5-6537-01A-11D-1719-10 TCGA-D5-6537-10A-01D-1719-10 g.chr19:41096749T>A c.1882T>A c.(1882-1884)Tcc>Acc p.S628T COAD 19 41096990 41096990 + Missense_Mutation SNP C C G TCGA-AA-A022-01A-21W-A096-10 TCGA-AA-A022-11A-11W-A096-10 g.chr19:41096990C>G c.2001C>G c.(1999-2001)tgC>tgG p.C667W COAD 19 41097003 41097003 + Missense_Mutation SNP C C T TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr19:41097003C>T c.2014C>T c.(2014-2016)Cgg>Tgg p.R672W COADREAD 19 41083523 41083523 + Nonsense_Mutation SNP G G T TCGA-AA-3977-01A-01W-0995-10 TCGA-AA-3977-10A-01W-0999-10 g.chr19:41083523G>T c.247G>T c.(247-249)Gag>Tag p.E83* COADREAD 19 41086317 41086317 + Missense_Mutation SNP C C T TCGA-D5-6928-01A-11D-1924-10 TCGA-D5-6928-10A-01D-1924-10 g.chr19:41086317C>T c.488C>T c.(487-489)aCg>aTg p.T163M COADREAD 19 41086793 41086793 + Silent SNP C C T TCGA-AA-3492-01A-01D-1408-10 TCGA-AA-3492-11A-01D-1408-10 g.chr19:41086793C>T c.795C>T c.(793-795)agC>agT p.S265S COADREAD 19 41088331 41088331 + Missense_Mutation SNP G G T TCGA-AA-3833-01A-01W-0900-09 TCGA-AA-3833-10A-01W-0900-09 g.chr19:41088331G>T c.919G>T c.(919-921)Ggg>Tgg p.G307W COADREAD 19 41089372 41089372 + Silent SNP C C T TCGA-A6-4105-01A-02D-1771-10 TCGA-A6-4105-10A-01D-1771-10 g.chr19:41089372C>T c.1029C>T c.(1027-1029)aaC>aaT p.N343N COADREAD 19 41092706 41092706 + Missense_Mutation SNP G G A TCGA-D5-6928-01A-11D-1924-10 TCGA-D5-6928-10A-01D-1924-10 g.chr19:41092706G>A c.1192G>A c.(1192-1194)Gcc>Acc p.A398T COADREAD 19 41095063 41095063 + Missense_Mutation SNP G G A TCGA-A6-6781-01A-22D-1924-10 TCGA-A6-6781-10A-01D-1924-10 g.chr19:41095063G>A c.1568G>A c.(1567-1569)cGt>cAt p.R523H COADREAD 19 41096183 41096183 + Silent SNP C C T TCGA-AD-6895-01A-11D-1924-10 TCGA-AD-6895-10A-01D-1924-10 g.chr19:41096183C>T c.1623C>T c.(1621-1623)ccC>ccT p.P541P COADREAD 19 41096635 41096635 + Splice_Site SNP G G C TCGA-CM-6171-01A-11D-1650-10 TCGA-CM-6171-10A-01D-1650-10 g.chr19:41096635G>C c.e17-1 COADREAD 19 41096696 41096696 + Missense_Mutation SNP C C T TCGA-AA-3854-01A-01W-0900-09 TCGA-AA-3854-10A-01W-0900-09 g.chr19:41096696C>T c.1829C>T c.(1828-1830)cCg>cTg p.P610L COADREAD 19 41096736 41096737 + Frame_Shift_Ins INS - - A TCGA-A6-6781-01A-22D-1924-10 TCGA-A6-6781-10A-01D-1924-10 g.chr19:41096736_41096737insA c.1869_1870insA c.(1870-1872)tcafs p.S624fs COADREAD 19 41096749 41096749 + Missense_Mutation SNP T T A TCGA-D5-6537-01A-11D-1719-10 TCGA-D5-6537-10A-01D-1719-10 g.chr19:41096749T>A c.1882T>A c.(1882-1884)Tcc>Acc p.S628T COADREAD 19 41096990 41096990 + Missense_Mutation SNP C C G TCGA-AA-A022-01A-21W-A096-10 TCGA-AA-A022-11A-11W-A096-10 g.chr19:41096990C>G c.2001C>G c.(1999-2001)tgC>tgG p.C667W COADREAD 19 41097003 41097003 + Missense_Mutation SNP C C T TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr19:41097003C>T c.2014C>T c.(2014-2016)Cgg>Tgg p.R672W ESCA 19 41094536 41094536 + Missense_Mutation SNP C C T TCGA-Q9-A6FW-01A-31D-A31U-09 TCGA-Q9-A6FW-10A-01D-A31U-09 g.chr19:41094536C>T c.1343C>T c.(1342-1344)gCc>gTc p.A448V ESCA 19 41096671 41096671 + Missense_Mutation SNP C C A TCGA-L5-A88V-01A-11D-A351-09 TCGA-L5-A88V-11A-11D-A351-09 g.chr19:41096671C>A c.1804C>A c.(1804-1806)Ctg>Atg p.L602M GBM 19 41083170 41083170 + Silent SNP C C A TCGA-06-6699-01A-11D-1845-08 TCGA-06-6699-10A-01D-1845-08 g.chr19:41083170C>A c.120C>A c.(118-120)atC>atA p.I40I GBM 19 41096902 41096902 + Missense_Mutation SNP A A G TCGA-76-6282-01A-11D-1696-08 TCGA-76-6282-10A-01D-1696-08 g.chr19:41096902A>G c.1913A>G c.(1912-1914)aAc>aGc p.N638S GBMLGG 19 41083170 41083170 + Silent SNP C C A TCGA-06-6699-01A-11D-1845-08 TCGA-06-6699-10A-01D-1845-08 g.chr19:41083170C>A c.120C>A c.(118-120)atC>atA p.I40I GBMLGG 19 41086793 41086793 + Silent SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr19:41086793C>T c.795C>T c.(793-795)agC>agT p.S265S GBMLGG 19 41094661 41094661 + Missense_Mutation SNP G G A TCGA-HT-8018-01A-11D-2395-08 TCGA-HT-8018-10A-01D-2396-08 g.chr19:41094661G>A c.1468G>A c.(1468-1470)Ggc>Agc p.G490S GBMLGG 19 41095083 41095083 + Splice_Site SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr19:41095083C>T c.1588C>T c.(1588-1590)Cgg>Tgg p.R530W GBMLGG 19 41096328 41096328 + Splice_Site SNP G G A TCGA-DU-7012-01A-11D-2024-08 TCGA-DU-7012-10A-01D-2024-08 g.chr19:41096328G>A c.1768G>A c.(1768-1770)Gca>Aca p.A590T GBMLGG 19 41096689 41096689 + Missense_Mutation SNP G G A TCGA-S9-A89Z-01A-11D-A36O-08 TCGA-S9-A89Z-10A-01D-A367-08 g.chr19:41096689G>A c.1822G>A c.(1822-1824)Gcc>Acc p.A608T GBMLGG 19 41096902 41096902 + Missense_Mutation SNP A A G TCGA-76-6282-01A-11D-1696-08 TCGA-76-6282-10A-01D-1696-08 g.chr19:41096902A>G c.1913A>G c.(1912-1914)aAc>aGc p.N638S HNSC 19 41082889 41082889 + Missense_Mutation SNP G G C TCGA-QK-A6V9-01A-11D-A34J-08 TCGA-QK-A6V9-10B-01D-A34M-08 g.chr19:41082889G>C c.84G>C c.(82-84)aaG>aaC p.K28N HNSC 19 41086389 41086389 + Nonsense_Mutation SNP C C G TCGA-T2-A6X2-01A-12D-A34J-08 TCGA-T2-A6X2-10B-01D-A34M-08 g.chr19:41086389C>G c.560C>G c.(559-561)tCa>tGa p.S187* HNSC 19 41086523 41086527 + Frame_Shift_Del DEL GGATC GGATC - TCGA-CV-7416-01A-11D-2078-08 TCGA-CV-7416-10A-01D-2078-08 g.chr19:41086523_41086527delGGATC c.614_618delGGATC c.(613-618)tggatcfs p.WI205fs HNSC 19 41089339 41089339 + Silent SNP G G T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 g.chr19:41089339G>T c.996G>T c.(994-996)gcG>gcT p.A332A HNSC 19 41096680 41096681 + Frame_Shift_Del DEL TG TG - TCGA-CV-A6JM-01A-11D-A31L-08 TCGA-CV-A6JM-10A-01D-A31J-08 g.chr19:41096680_41096681delTG c.1813_1814delTG c.(1813-1815)tgtfs p.C605fs KIPAN 19 41094601 41094601 + Missense_Mutation SNP G G A TCGA-B0-5698-01A-11D-1669-08 TCGA-B0-5698-10A-01D-1669-08 g.chr19:41094601G>A c.1408G>A c.(1408-1410)Ggc>Agc p.G470S KIRC 19 41094601 41094601 + Missense_Mutation SNP G G A TCGA-B0-5698-01A-11D-1669-08 TCGA-B0-5698-10A-01D-1669-08 g.chr19:41094601G>A c.1408G>A c.(1408-1410)Ggc>Agc p.G470S LGG 19 41086793 41086793 + Silent SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr19:41086793C>T c.795C>T c.(793-795)agC>agT p.S265S LGG 19 41094661 41094661 + Missense_Mutation SNP G G A TCGA-HT-8018-01A-11D-2395-08 TCGA-HT-8018-10A-01D-2396-08 g.chr19:41094661G>A c.1468G>A c.(1468-1470)Ggc>Agc p.G490S LGG 19 41095083 41095083 + Splice_Site SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr19:41095083C>T c.1588C>T c.(1588-1590)Cgg>Tgg p.R530W LGG 19 41096328 41096328 + Splice_Site SNP G G A TCGA-DU-7012-01A-11D-2024-08 TCGA-DU-7012-10A-01D-2024-08 g.chr19:41096328G>A c.1768G>A c.(1768-1770)Gca>Aca p.A590T LGG 19 41096689 41096689 + Missense_Mutation SNP G G A TCGA-S9-A89Z-01A-11D-A36O-08 TCGA-S9-A89Z-10A-01D-A367-08 g.chr19:41096689G>A c.1822G>A c.(1822-1824)Gcc>Acc p.A608T LIHC 19 41089323 41089323 + Missense_Mutation SNP T T A TCGA-BC-A10U-01A-11D-A12Z-10 TCGA-BC-A10U-11A-11D-A12Z-10 g.chr19:41089323T>A c.980T>A c.(979-981)aTc>aAc p.I327N LIHC 19 41094616 41094616 + Missense_Mutation SNP G G T TCGA-ES-A2HS-01A-11D-A183-10 TCGA-ES-A2HS-11A-11D-A183-10 g.chr19:41094616G>T c.1423G>T c.(1423-1425)Gct>Tct p.A475S LIHC 19 41095066 41095066 + Missense_Mutation SNP T T C TCGA-DD-A1EG-01A-11D-A20W-10 TCGA-DD-A1EG-10A-01D-A20W-10 g.chr19:41095066T>C c.1571T>C c.(1570-1572)cTc>cCc p.L524P LUAD 19 41086559 41086559 + Missense_Mutation SNP A A G TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 g.chr19:41086559A>G c.650A>G c.(649-651)tAc>tGc p.Y217C LUAD 19 41092698 41092698 + Missense_Mutation SNP T T A TCGA-55-A494-01A-11D-A24P-08 TCGA-55-A494-10A-01D-A24P-08 g.chr19:41092698T>A c.1184T>A c.(1183-1185)aTc>aAc p.I395N LUAD 19 41094612 41094612 + Silent SNP A A G TCGA-55-7995-01A-11D-2184-08 TCGA-55-7995-10A-01D-2184-08 g.chr19:41094612A>G c.1419A>G c.(1417-1419)ccA>ccG p.P473P LUAD 19 41096894 41096894 + Silent SNP C C A TCGA-17-Z053-01A-01W-0747-08 TCGA-17-Z053-11A-01W-0747-08 g.chr19:41096894C>A c.1905C>A c.(1903-1905)gcC>gcA p.A635A LUSC 19 41083301 41083301 + Splice_Site SNP G G T TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 g.chr19:41083301G>T c.e3-1 LUSC 19 41086391 41086391 + Splice_Site SNP G G A TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 g.chr19:41086391G>A c.562G>A c.(562-564)Gga>Aga p.G188R LUSC 19 41086788 41086788 + Missense_Mutation SNP G G A TCGA-34-5239-01A-21D-1817-08 TCGA-34-5239-10A-01D-1817-08 g.chr19:41086788G>A c.790G>A c.(790-792)Ggc>Agc p.G264S LUSC 19 41097083 41097083 + Silent SNP C C T TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 g.chr19:41097083C>T c.2094C>T c.(2092-2094)ccC>ccT p.P698P OV 19 41089374 41089374 + Missense_Mutation SNP G G C TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 g.chr19:41089374G>C c.1031G>C c.(1030-1032)gGc>gCc p.G344A OV 19 41094995 41094995 + Silent SNP C C T TCGA-31-1959-01A-01W-0699-08 TCGA-31-1959-10A-01W-0700-08 g.chr19:41094995C>T c.1500C>T c.(1498-1500)taC>taT p.Y500Y PAAD 19 41083342 41083342 + Missense_Mutation SNP G G A TCGA-IB-A5SS-01A-11D-A32N-08 TCGA-IB-A5SS-10A-01D-A32N-08 g.chr19:41083342G>A c.181G>A c.(181-183)Gga>Aga p.G61R PAAD 19 41089528 41089528 + Missense_Mutation SNP G G A TCGA-FZ-5923-01A-12D-1609-08 TCGA-FZ-5923-11A-01D-1609-08 g.chr19:41089528G>A c.1070G>A c.(1069-1071)cGc>cAc p.R357H PAAD 19 41096643 41096643 + Silent SNP C C T TCGA-US-A77E-01A-11D-A32N-08 TCGA-US-A77E-11A-11D-A32N-08 g.chr19:41096643C>T c.1776C>T c.(1774-1776)ggC>ggT p.G592G PCPG 19 41094581 41094581 + Missense_Mutation SNP G G A TCGA-WB-A81G-01A-11D-A35I-08 TCGA-WB-A81G-10A-01D-A35G-08 g.chr19:41094581G>A c.1388G>A c.(1387-1389)gGc>gAc p.G463D PRAD 19 41096646 41096646 + Silent SNP G G T TCGA-YL-A9WJ-01A-11D-A377-08 TCGA-YL-A9WJ-10A-01D-A37A-08 g.chr19:41096646G>T c.1779G>T c.(1777-1779)ctG>ctT p.L593L SKCM 19 41083314 41083314 + Silent SNP A A G TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 g.chr19:41083314A>G c.153A>G c.(151-153)ggA>ggG p.G51G SKCM 19 41083492 41083492 + Silent SNP C C T TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr19:41083492C>T c.216C>T c.(214-216)ttC>ttT p.F72F SKCM 19 41086272 41086272 + Missense_Mutation SNP C C T TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr19:41086272C>T c.443C>T c.(442-444)cCt>cTt p.P148L SKCM 19 41086326 41086326 + Missense_Mutation SNP C C T TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 g.chr19:41086326C>T c.497C>T c.(496-498)cCc>cTc p.P166L SKCM 19 41086712 41086712 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 g.chr19:41086712C>T c.714C>T c.(712-714)atC>atT p.I238I SKCM 19 41089548 41089548 + Missense_Mutation SNP C C T TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 g.chr19:41089548C>T c.1090C>T c.(1090-1092)Ctt>Ttt p.L364F SKCM 19 41092699 41092699 + Silent SNP C C T TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 g.chr19:41092699C>T c.1185C>T c.(1183-1185)atC>atT p.I395I SKCM 19 41092808 41092808 + Missense_Mutation SNP C C T TCGA-ER-A19W-06A-41D-A23B-08 TCGA-ER-A19W-10A-01D-A23B-08 g.chr19:41092808C>T c.1294C>T c.(1294-1296)Cct>Tct p.P432S SKCM 19 41095040 41095040 + Silent SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 g.chr19:41095040C>T c.1545C>T c.(1543-1545)ccC>ccT p.P515P SKCM 19 41096183 41096183 + Silent SNP C C T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 g.chr19:41096183C>T c.1623C>T c.(1621-1623)ccC>ccT p.P541P SKCM 19 41096235 41096235 + Missense_Mutation SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 g.chr19:41096235C>T c.1675C>T c.(1675-1677)Cgg>Tgg p.R559W SKCM 19 41096275 41096275 + Missense_Mutation SNP G G C TCGA-EE-A180-06A-11D-A21A-08 TCGA-EE-A180-10B-01D-A21A-08 g.chr19:41096275G>C c.1715G>C c.(1714-1716)aGc>aCc p.S572T SKCM 19 41096315 41096315 + Silent SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 g.chr19:41096315C>T c.1755C>T c.(1753-1755)ctC>ctT p.L585L SKCM 19 41096727 41096727 + Silent SNP C C T TCGA-RP-A694-06A-11D-A30X-08 TCGA-RP-A694-10A-01D-A30X-08 g.chr19:41096727C>T c.1860C>T c.(1858-1860)ctC>ctT p.L620L SKCM 19 41096728 41096728 + Missense_Mutation SNP C C T TCGA-RP-A694-06A-11D-A30X-08 TCGA-RP-A694-10A-01D-A30X-08 g.chr19:41096728C>T c.1861C>T c.(1861-1863)Ccc>Tcc p.P621S

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BLCA-CN 19 41086383 41086383 single base substitution C A 3_prime_UTR_variant BLCA-CN 19 41086383 41086383 single base substitution C A downstream_gene_variant BLCA-CN 19 41086383 41086383 single base substitution C A exon_variant BLCA-CN 19 41086383 41086383 single base substitution C A stop_gained S108* 323C>A BLCA-CN 19 41086383 41086383 single base substitution C A stop_gained S179* 536C>A BLCA-CN 19 41086383 41086383 single base substitution C A stop_gained S185* 554C>A BLCA-CN 19 41086383 41086383 single base substitution C A upstream_gene_variant BLCA-US 19 41086561 41086561 single base substitution A G downstream_gene_variant BLCA-US 19 41086561 41086561 single base substitution A G missense_variant R212G 634A>G BLCA-US 19 41086561 41086561 single base substitution A G missense_variant R218G 652A>G BLCA-US 19 41086561 41086561 single base substitution A G splice_region_variant BLCA-US 19 41086561 41086561 single base substitution A G upstream_gene_variant BLCA-US 19 41088265 41088265 single base substitution C T downstream_gene_variant BLCA-US 19 41088265 41088265 single base substitution C T exon_variant BLCA-US 19 41088265 41088265 single base substitution C T intron_variant BLCA-US 19 41088265 41088265 single base substitution C T missense_variant H279Y 835C>T BLCA-US 19 41088265 41088265 single base substitution C T missense_variant H285Y 853C>T BLCA-US 19 41088265 41088265 single base substitution C T upstream_gene_variant BLCA-US 19 41096303 41096303 single base substitution C T downstream_gene_variant BLCA-US 19 41096303 41096303 single base substitution C T exon_variant BLCA-US 19 41096303 41096303 single base substitution C T intron_variant BLCA-US 19 41096303 41096303 single base substitution C T synonymous_variant A152A 456C>T BLCA-US 19 41096303 41096303 single base substitution C T synonymous_variant A181A 543C>T BLCA-US 19 41096303 41096303 single base substitution C T synonymous_variant A556A 1668C>T BLCA-US 19 41096303 41096303 single base substitution C T synonymous_variant A581A 1743C>T BRCA-EU 19 41078500 41078500 single base substitution C T upstream_gene_variant BRCA-EU 19 41078520 41078520 single base substitution C G upstream_gene_variant BRCA-EU 19 41079668 41079668 single base substitution C T upstream_gene_variant BRCA-EU 19 41079709 41079709 single base substitution C G upstream_gene_variant BRCA-EU 19 41080417 41080417 single base substitution G A upstream_gene_variant BRCA-EU 19 41080850 41080850 single base substitution G A upstream_gene_variant BRCA-EU 19 41080878 41080878 single base substitution G A upstream_gene_variant BRCA-EU 19 41080886 41080886 single base substitution A T upstream_gene_variant BRCA-EU 19 41081289 41081289 single base substitution G C upstream_gene_variant BRCA-EU 19 41081293 41081293 single base substitution T G upstream_gene_variant BRCA-EU 19 41083665 41083665 single base substitution G T exon_variant BRCA-EU 19 41083665 41083665 single base substitution G T intron_variant BRCA-EU 19 41083665 41083665 single base substitution G T upstream_gene_variant BRCA-EU 19 41084542 41084542 single base substitution C T downstream_gene_variant BRCA-EU 19 41084542 41084542 single base substitution C T intron_variant BRCA-EU 19 41084542 41084542 single base substitution C T upstream_gene_variant BRCA-EU 19 41085666 41085666 single base substitution A G downstream_gene_variant BRCA-EU 19 41085666 41085666 single base substitution A G intron_variant BRCA-EU 19 41085666 41085666 single base substitution A G upstream_gene_variant BRCA-EU 19 41085932 41085932 single base substitution C T downstream_gene_variant BRCA-EU 19 41085932 41085932 single base substitution C T intron_variant BRCA-EU 19 41085932 41085932 single base substitution C T upstream_gene_variant BRCA-EU 19 41087602 41087602 single base substitution G A downstream_gene_variant BRCA-EU 19 41087602 41087602 single base substitution G A intron_variant BRCA-EU 19 41087602 41087602 single base substitution G A upstream_gene_variant BRCA-EU 19 41088002 41088002 deletion of <=200bp T - downstream_gene_variant BRCA-EU 19 41088002 41088002 deletion of <=200bp T - intron_variant BRCA-EU 19 41088002 41088002 deletion of <=200bp T - upstream_gene_variant BRCA-EU 19 41088398 41088398 deletion of <=200bp C - downstream_gene_variant BRCA-EU 19 41088398 41088398 deletion of <=200bp C - exon_variant BRCA-EU 19 41088398 41088398 deletion of <=200bp C - intron_variant BRCA-EU 19 41088398 41088398 deletion of <=200bp C - upstream_gene_variant BRCA-EU 19 41091088 41091088 single base substitution C T downstream_gene_variant BRCA-EU 19 41091088 41091088 single base substitution C T intron_variant BRCA-EU 19 41091088 41091088 single base substitution C T upstream_gene_variant BRCA-EU 19 41091291 41091291 single base substitution C T downstream_gene_variant BRCA-EU 19 41091291 41091291 single base substitution C T intron_variant BRCA-EU 19 41091291 41091291 single base substitution C T upstream_gene_variant BRCA-EU 19 41092281 41092281 insertion of <=200bp - C downstream_gene_variant BRCA-EU 19 41092281 41092281 insertion of <=200bp - C intron_variant BRCA-EU 19 41092281 41092281 insertion of <=200bp - C upstream_gene_variant BRCA-EU 19 41092575 41092575 single base substitution C A downstream_gene_variant BRCA-EU 19 41092575 41092575 single base substitution C A intron_variant BRCA-EU 19 41092575 41092575 single base substitution C A upstream_gene_variant BRCA-EU 19 41093042 41093042 single base substitution G T downstream_gene_variant BRCA-EU 19 41093042 41093042 single base substitution G T intron_variant BRCA-EU 19 41093042 41093042 single base substitution G T upstream_gene_variant BRCA-EU 19 41093605 41093605 single base substitution G A intron_variant BRCA-EU 19 41093605 41093605 single base substitution G A upstream_gene_variant BRCA-EU 19 41094661 41094661 single base substitution G A exon_variant BRCA-EU 19 41094661 41094661 single base substitution G A intron_variant BRCA-EU 19 41094661 41094661 single base substitution G A missense_variant G124S 370G>A BRCA-EU 19 41094661 41094661 single base substitution G A missense_variant G138S 412G>A BRCA-EU 19 41094661 41094661 single base substitution G A missense_variant G465S 1393G>A BRCA-EU 19 41094661 41094661 single base substitution G A missense_variant G484S 1450G>A BRCA-EU 19 41094661 41094661 single base substitution G A missense_variant G490S 1468G>A BRCA-EU 19 41094661 41094661 single base substitution G A missense_variant G61S 181G>A BRCA-EU 19 41094661 41094661 single base substitution G A missense_variant G90S 268G>A BRCA-EU 19 41094661 41094661 single base substitution G A synonymous_variant A5A 15G>A BRCA-EU 19 41094661 41094661 single base substitution G A upstream_gene_variant BRCA-EU 19 41096570 41096570 single base substitution A G downstream_gene_variant BRCA-EU 19 41096570 41096570 single base substitution A G intron_variant BRCA-EU 19 41097929 41097929 single base substitution C A downstream_gene_variant BRCA-EU 19 41098847 41098847 single base substitution G T downstream_gene_variant BRCA-EU 19 41098895 41098895 single base substitution G C downstream_gene_variant BRCA-EU 19 41099080 41099080 single base substitution C G downstream_gene_variant BRCA-EU 19 41099213 41099213 single base substitution A G downstream_gene_variant BRCA-EU 19 41099833 41099833 single base substitution G A downstream_gene_variant BRCA-EU 19 41100079 41100079 single base substitution G A downstream_gene_variant BRCA-EU 19 41100580 41100580 single base substitution G C downstream_gene_variant BRCA-EU 19 41100818 41100818 single base substitution G T downstream_gene_variant BRCA-EU 19 41101575 41101575 single base substitution G A downstream_gene_variant BRCA-EU 19 41101915 41101915 single base substitution C G downstream_gene_variant BRCA-FR 19 41078520 41078520 single base substitution C G upstream_gene_variant BRCA-FR 19 41079668 41079668 single base substitution C T upstream_gene_variant BRCA-FR 19 41079709 41079709 single base substitution C G upstream_gene_variant BRCA-FR 19 41097929 41097929 single base substitution C A downstream_gene_variant BRCA-UK 19 41082589 41082589 single base substitution C T upstream_gene_variant BRCA-UK 19 41086542 41086542 single base substitution C G 3_prime_UTR_variant BRCA-UK 19 41086542 41086542 single base substitution C G downstream_gene_variant BRCA-UK 19 41086542 41086542 single base substitution C G exon_variant BRCA-UK 19 41086542 41086542 single base substitution C G synonymous_variant T205T 615C>G BRCA-UK 19 41086542 41086542 single base substitution C G synonymous_variant T211T 633C>G BRCA-UK 19 41086542 41086542 single base substitution C G upstream_gene_variant BRCA-UK 19 41091088 41091088 single base substitution C T downstream_gene_variant BRCA-UK 19 41091088 41091088 single base substitution C T intron_variant BRCA-UK 19 41091088 41091088 single base substitution C T upstream_gene_variant BRCA-US 19 41084069 41084069 single base substitution C T 3_prime_UTR_variant BRCA-US 19 41084069 41084069 single base substitution C T downstream_gene_variant BRCA-US 19 41084069 41084069 single base substitution C T exon_variant BRCA-US 19 41084069 41084069 single base substitution C T intron_variant BRCA-US 19 41084069 41084069 single base substitution C T synonymous_variant H84H 252C>T BRCA-US 19 41084069 41084069 single base substitution C T synonymous_variant H90H 270C>T BRCA-US 19 41084069 41084069 single base substitution C T upstream_gene_variant BRCA-US 19 41092756 41092756 single base substitution G T downstream_gene_variant BRCA-US 19 41092756 41092756 single base substitution G T exon_variant BRCA-US 19 41092756 41092756 single base substitution G T intron_variant BRCA-US 19 41092756 41092756 single base substitution G T missense_variant E25D 75G>T BRCA-US 19 41092756 41092756 single base substitution G T missense_variant E389D 1167G>T BRCA-US 19 41092756 41092756 single base substitution G T missense_variant E408D 1224G>T BRCA-US 19 41092756 41092756 single base substitution G T missense_variant E414D 1242G>T BRCA-US 19 41092756 41092756 single base substitution G T missense_variant E48D 144G>T BRCA-US 19 41092756 41092756 single base substitution G T missense_variant E62D 186G>T BRCA-US 19 41092756 41092756 single base substitution G T upstream_gene_variant BRCA-US 19 41094607 41094607 single base substitution A C exon_variant BRCA-US 19 41094607 41094607 single base substitution A C intron_variant BRCA-US 19 41094607 41094607 single base substitution A C missense_variant T106P 316A>C BRCA-US 19 41094607 41094607 single base substitution A C missense_variant T120P 358A>C BRCA-US 19 41094607 41094607 single base substitution A C missense_variant T43P 127A>C BRCA-US 19 41094607 41094607 single base substitution A C missense_variant T447P 1339A>C BRCA-US 19 41094607 41094607 single base substitution A C missense_variant T466P 1396A>C BRCA-US 19 41094607 41094607 single base substitution A C missense_variant T472P 1414A>C BRCA-US 19 41094607 41094607 single base substitution A C missense_variant T72P 214A>C BRCA-US 19 41094607 41094607 single base substitution A C upstream_gene_variant BRCA-US 19 41095083 41095083 single base substitution C T downstream_gene_variant BRCA-US 19 41095083 41095083 single base substitution C T intron_variant BRCA-US 19 41095083 41095083 single base substitution C T missense_variant R101W 301C>T BRCA-US 19 41095083 41095083 single base substitution C T missense_variant R130W 388C>T BRCA-US 19 41095083 41095083 single base substitution C T missense_variant R505W 1513C>T BRCA-US 19 41095083 41095083 single base substitution C T missense_variant R530W 1588C>T BRCA-US 19 41095083 41095083 single base substitution C T splice_region_variant BRCA-US 19 41095083 41095083 single base substitution C T upstream_gene_variant BTCA-JP 19 41077994 41077994 single base substitution G A upstream_gene_variant BTCA-JP 19 41082813 41082813 single base substitution C T exon_variant BTCA-JP 19 41082813 41082813 single base substitution C T missense_variant A3V 8C>T BTCA-JP 19 41082813 41082813 single base substitution C T upstream_gene_variant BTCA-JP 19 41083376 41083376 deletion of <=200bp G - exon_variant BTCA-JP 19 41083376 41083376 deletion of <=200bp G - intron_variant BTCA-JP 19 41083376 41083376 deletion of <=200bp G - upstream_gene_variant BTCA-JP 19 41088180 41088180 single base substitution G C downstream_gene_variant BTCA-JP 19 41088180 41088180 single base substitution G C intron_variant BTCA-JP 19 41088180 41088180 single base substitution G C upstream_gene_variant BTCA-JP 19 41099046 41099046 single base substitution G A downstream_gene_variant CESC-US 19 41083465 41083465 single base substitution C T exon_variant CESC-US 19 41083465 41083465 single base substitution C T missense_variant S6F 17C>T CESC-US 19 41083465 41083465 single base substitution C T splice_region_variant CESC-US 19 41083465 41083465 single base substitution C T upstream_gene_variant CESC-US 19 41083468 41083468 single base substitution C T exon_variant CESC-US 19 41083468 41083468 single base substitution C T missense_variant S7L 20C>T CESC-US 19 41083468 41083468 single base substitution C T synonymous_variant F58F 174C>T CESC-US 19 41083468 41083468 single base substitution C T synonymous_variant F64F 192C>T CESC-US 19 41083468 41083468 single base substitution C T upstream_gene_variant CESC-US 19 41094630 41094630 single base substitution C G exon_variant CESC-US 19 41094630 41094630 single base substitution C G intron_variant CESC-US 19 41094630 41094630 single base substitution C G missense_variant I113M 339C>G CESC-US 19 41094630 41094630 single base substitution C G missense_variant I127M 381C>G CESC-US 19 41094630 41094630 single base substitution C G missense_variant I454M 1362C>G CESC-US 19 41094630 41094630 single base substitution C G missense_variant I473M 1419C>G CESC-US 19 41094630 41094630 single base substitution C G missense_variant I479M 1437C>G CESC-US 19 41094630 41094630 single base substitution C G missense_variant I50M 150C>G CESC-US 19 41094630 41094630 single base substitution C G missense_variant I79M 237C>G CESC-US 19 41094630 41094630 single base substitution C G upstream_gene_variant CESC-US 19 41096211 41096211 single base substitution G A downstream_gene_variant CESC-US 19 41096211 41096211 single base substitution G A exon_variant CESC-US 19 41096211 41096211 single base substitution G A intron_variant CESC-US 19 41096211 41096211 single base substitution G A missense_variant E122K 364G>A CESC-US 19 41096211 41096211 single base substitution G A missense_variant E151K 451G>A CESC-US 19 41096211 41096211 single base substitution G A missense_variant E526K 1576G>A CESC-US 19 41096211 41096211 single base substitution G A missense_variant E551K 1651G>A COAD-US 19 41086317 41086317 single base substitution C T 3_prime_UTR_variant COAD-US 19 41086317 41086317 single base substitution C T downstream_gene_variant COAD-US 19 41086317 41086317 single base substitution C T exon_variant COAD-US 19 41086317 41086317 single base substitution C T missense_variant T157M 470C>T COAD-US 19 41086317 41086317 single base substitution C T missense_variant T163M 488C>T COAD-US 19 41086317 41086317 single base substitution C T missense_variant T86M 257C>T COAD-US 19 41086317 41086317 single base substitution C T upstream_gene_variant COAD-US 19 41086793 41086793 single base substitution C T downstream_gene_variant COAD-US 19 41086793 41086793 single base substitution C T exon_variant COAD-US 19 41086793 41086793 single base substitution C T synonymous_variant S259S 777C>T COAD-US 19 41086793 41086793 single base substitution C T synonymous_variant S265S 795C>T COAD-US 19 41086793 41086793 single base substitution C T upstream_gene_variant COAD-US 19 41089372 41089372 single base substitution C T 5_prime_UTR_variant COAD-US 19 41089372 41089372 single base substitution C T downstream_gene_variant COAD-US 19 41089372 41089372 single base substitution C T exon_variant COAD-US 19 41089372 41089372 single base substitution C T synonymous_variant N318N 954C>T COAD-US 19 41089372 41089372 single base substitution C T synonymous_variant N337N 1011C>T COAD-US 19 41089372 41089372 single base substitution C T synonymous_variant N343N 1029C>T COAD-US 19 41089372 41089372 single base substitution C T upstream_gene_variant COAD-US 19 41092706 41092706 single base substitution G A downstream_gene_variant COAD-US 19 41092706 41092706 single base substitution G A exon_variant COAD-US 19 41092706 41092706 single base substitution G A intron_variant COAD-US 19 41092706 41092706 single base substitution G A missense_variant A32T 94G>A COAD-US 19 41092706 41092706 single base substitution G A missense_variant A373T 1117G>A COAD-US 19 41092706 41092706 single base substitution G A missense_variant A392T 1174G>A COAD-US 19 41092706 41092706 single base substitution G A missense_variant A398T 1192G>A COAD-US 19 41092706 41092706 single base substitution G A missense_variant A46T 136G>A COAD-US 19 41092706 41092706 single base substitution G A missense_variant A9T 25G>A COAD-US 19 41092706 41092706 single base substitution G A upstream_gene_variant COAD-US 19 41095063 41095063 single base substitution G A downstream_gene_variant COAD-US 19 41095063 41095063 single base substitution G A exon_variant COAD-US 19 41095063 41095063 single base substitution G A intron_variant COAD-US 19 41095063 41095063 single base substitution G A missense_variant R123H 368G>A COAD-US 19 41095063 41095063 single base substitution G A missense_variant R498H 1493G>A COAD-US 19 41095063 41095063 single base substitution G A missense_variant R523H 1568G>A COAD-US 19 41095063 41095063 single base substitution G A missense_variant R94H 281G>A COAD-US 19 41095063 41095063 single base substitution G A missense_variant V19I 55G>A COAD-US 19 41095063 41095063 single base substitution G A missense_variant V39I 115G>A COAD-US 19 41095063 41095063 single base substitution G A upstream_gene_variant COAD-US 19 41095087 41095112 deletion of <=200bp GAGGACAGTCCTGTCCAACAGGGAGG - downstream_gene_variant COAD-US 19 41095087 41095112 deletion of <=200bp GAGGACAGTCCTGTCCAACAGGGAGG - intron_variant COAD-US 19 41095087 41095112 deletion of <=200bp GAGGACAGTCCTGTCCAACAGGGAGG - splice_region_variant COAD-US 19 41095087 41095112 deletion of <=200bp GAGGACAGTCCTGTCCAACAGGGAGG - upstream_gene_variant COAD-US 19 41096183 41096183 single base substitution C T downstream_gene_variant COAD-US 19 41096183 41096183 single base substitution C T exon_variant COAD-US 19 41096183 41096183 single base substitution C T intron_variant COAD-US 19 41096183 41096183 single base substitution C T synonymous_variant P112P 336C>T COAD-US 19 41096183 41096183 single base substitution C T synonymous_variant P141P 423C>T COAD-US 19 41096183 41096183 single base substitution C T synonymous_variant P516P 1548C>T COAD-US 19 41096183 41096183 single base substitution C T synonymous_variant P541P 1623C>T COAD-US 19 41096736 41096736 insertion of <=200bp - A 3_prime_UTR_variant COAD-US 19 41096736 41096736 insertion of <=200bp - A downstream_gene_variant COAD-US 19 41096736 41096736 insertion of <=200bp - A exon_variant COAD-US 19 41096736 41096736 insertion of <=200bp - A frameshift_variant P165P? COAD-US 19 41096736 41096736 insertion of <=200bp - A frameshift_variant P178P? COAD-US 19 41096736 41096736 insertion of <=200bp - A frameshift_variant P193P? COAD-US 19 41096736 41096736 insertion of <=200bp - A frameshift_variant P223P? COAD-US 19 41096736 41096736 insertion of <=200bp - A frameshift_variant P525P? COAD-US 19 41096736 41096736 insertion of <=200bp - A frameshift_variant P58P? COAD-US 19 41096736 41096736 insertion of <=200bp - A frameshift_variant P598P? COAD-US 19 41096736 41096736 insertion of <=200bp - A frameshift_variant P623P? COAD-US 19 41096736 41096736 insertion of <=200bp - A frameshift_variant P79P? COAD-US 19 41096736 41096736 insertion of <=200bp - A frameshift_variant P90P? COAD-US 19 41096749 41096749 single base substitution T A 3_prime_UTR_variant COAD-US 19 41096749 41096749 single base substitution T A downstream_gene_variant COAD-US 19 41096749 41096749 single base substitution T A exon_variant COAD-US 19 41096749 41096749 single base substitution T A missense_variant S170T 508T>A COAD-US 19 41096749 41096749 single base substitution T A missense_variant S183T 547T>A COAD-US 19 41096749 41096749 single base substitution T A missense_variant S198T 592T>A COAD-US 19 41096749 41096749 single base substitution T A missense_variant S228T 682T>A COAD-US 19 41096749 41096749 single base substitution T A missense_variant S530T 1588T>A COAD-US 19 41096749 41096749 single base substitution T A missense_variant S603T 1807T>A COAD-US 19 41096749 41096749 single base substitution T A missense_variant S628T 1882T>A COAD-US 19 41096749 41096749 single base substitution T A missense_variant S63T 187T>A COAD-US 19 41096749 41096749 single base substitution T A missense_variant S84T 250T>A COAD-US 19 41096749 41096749 single base substitution T A missense_variant S95T 283T>A COCA-CN 19 41077985 41077985 single base substitution C A upstream_gene_variant COCA-CN 19 41078220 41078220 single base substitution G C upstream_gene_variant COCA-CN 19 41086787 41086787 single base substitution C T downstream_gene_variant COCA-CN 19 41086787 41086787 single base substitution C T exon_variant COCA-CN 19 41086787 41086787 single base substitution C T synonymous_variant T257T 771C>T COCA-CN 19 41086787 41086787 single base substitution C T synonymous_variant T263T 789C>T COCA-CN 19 41086787 41086787 single base substitution C T upstream_gene_variant COCA-CN 19 41094835 41094835 single base substitution G C downstream_gene_variant COCA-CN 19 41094835 41094835 single base substitution G C intron_variant COCA-CN 19 41094835 41094835 single base substitution G C upstream_gene_variant COCA-CN 19 41095112 41095112 single base substitution G T downstream_gene_variant COCA-CN 19 41095112 41095112 single base substitution G T intron_variant COCA-CN 19 41095112 41095112 single base substitution G T upstream_gene_variant COCA-CN 19 41095117 41095117 single base substitution A T downstream_gene_variant COCA-CN 19 41095117 41095117 single base substitution A T intron_variant COCA-CN 19 41095117 41095117 single base substitution A T upstream_gene_variant COCA-CN 19 41097119 41097119 single base substitution G A 3_prime_UTR_variant COCA-CN 19 41097119 41097119 single base substitution G A downstream_gene_variant COCA-CN 19 41097119 41097119 single base substitution G A exon_variant EOPC-DE 19 41086253 41086253 single base substitution C T 3_prime_UTR_variant EOPC-DE 19 41086253 41086253 single base substitution C T downstream_gene_variant EOPC-DE 19 41086253 41086253 single base substitution C T exon_variant EOPC-DE 19 41086253 41086253 single base substitution C T missense_variant R136W 406C>T EOPC-DE 19 41086253 41086253 single base substitution C T missense_variant R142W 424C>T EOPC-DE 19 41086253 41086253 single base substitution C T missense_variant R65W 193C>T EOPC-DE 19 41086253 41086253 single base substitution C T upstream_gene_variant EOPC-DE 19 41100446 41100446 single base substitution G T downstream_gene_variant ESAD-UK 19 41078024 41078024 single base substitution G A upstream_gene_variant ESAD-UK 19 41079899 41079899 single base substitution T C upstream_gene_variant ESAD-UK 19 41084272 41084272 single base substitution G A downstream_gene_variant ESAD-UK 19 41084272 41084272 single base substitution G A exon_variant ESAD-UK 19 41084272 41084272 single base substitution G A intron_variant ESAD-UK 19 41084272 41084272 single base substitution G A upstream_gene_variant ESAD-UK 19 41086735 41086735 single base substitution G A 3_prime_UTR_variant ESAD-UK 19 41086735 41086735 single base substitution G A downstream_gene_variant ESAD-UK 19 41086735 41086735 single base substitution G A exon_variant ESAD-UK 19 41086735 41086735 single base substitution G A missense_variant R240Q 719G>A ESAD-UK 19 41086735 41086735 single base substitution G A missense_variant R246Q 737G>A ESAD-UK 19 41086735 41086735 single base substitution G A upstream_gene_variant ESAD-UK 19 41087717 41087717 single base substitution T C downstream_gene_variant ESAD-UK 19 41087717 41087717 single base substitution T C intron_variant ESAD-UK 19 41087717 41087717 single base substitution T C upstream_gene_variant ESAD-UK 19 41092608 41092608 single base substitution T G downstream_gene_variant ESAD-UK 19 41092608 41092608 single base substitution T G exon_variant ESAD-UK 19 41092608 41092608 single base substitution T G intron_variant ESAD-UK 19 41092608 41092608 single base substitution T G upstream_gene_variant ESAD-UK 19 41092729 41092729 single base substitution C T downstream_gene_variant ESAD-UK 19 41092729 41092729 single base substitution C T exon_variant ESAD-UK 19 41092729 41092729 single base substitution C T intron_variant ESAD-UK 19 41092729 41092729 single base substitution C T synonymous_variant G16G 48C>T ESAD-UK 19 41092729 41092729 single base substitution C T synonymous_variant G380G 1140C>T ESAD-UK 19 41092729 41092729 single base substitution C T synonymous_variant G399G 1197C>T ESAD-UK 19 41092729 41092729 single base substitution C T synonymous_variant G39G 117C>T ESAD-UK 19 41092729 41092729 single base substitution C T synonymous_variant G405G 1215C>T ESAD-UK 19 41092729 41092729 single base substitution C T synonymous_variant G53G 159C>T ESAD-UK 19 41092729 41092729 single base substitution C T upstream_gene_variant ESAD-UK 19 41097092 41097092 single base substitution G A 3_prime_UTR_variant ESAD-UK 19 41097092 41097092 single base substitution G A downstream_gene_variant ESAD-UK 19 41097092 41097092 single base substitution G A exon_variant ESAD-UK 19 41097092 41097092 single base substitution G A synonymous_variant K136K 408G>A ESAD-UK 19 41097092 41097092 single base substitution G A synonymous_variant K157K 471G>A ESAD-UK 19 41097092 41097092 single base substitution G A synonymous_variant K168K 504G>A ESAD-UK 19 41097092 41097092 single base substitution G A synonymous_variant K243K 729G>A ESAD-UK 19 41097092 41097092 single base substitution G A synonymous_variant K256K 768G>A ESAD-UK 19 41097092 41097092 single base substitution G A synonymous_variant K271K 813G>A ESAD-UK 19 41097092 41097092 single base substitution G A synonymous_variant K603K 1809G>A ESAD-UK 19 41097092 41097092 single base substitution G A synonymous_variant K676K 2028G>A ESAD-UK 19 41097092 41097092 single base substitution G A synonymous_variant K701K 2103G>A ESAD-UK 19 41098501 41098501 single base substitution T C downstream_gene_variant ESAD-UK 19 41100014 41100014 deletion of <=200bp G - downstream_gene_variant ESCA-CN 19 41078012 41078012 single base substitution C T upstream_gene_variant ESCA-CN 19 41095117 41095117 single base substitution A T downstream_gene_variant ESCA-CN 19 41095117 41095117 single base substitution A T intron_variant ESCA-CN 19 41095117 41095117 single base substitution A T upstream_gene_variant GBM-US 19 41083170 41083170 single base substitution C A 5_prime_UTR_variant GBM-US 19 41083170 41083170 single base substitution C A exon_variant GBM-US 19 41083170 41083170 single base substitution C A synonymous_variant I34I 102C>A GBM-US 19 41083170 41083170 single base substitution C A synonymous_variant I40I 120C>A GBM-US 19 41083170 41083170 single base substitution C A upstream_gene_variant GBM-US 19 41096902 41096902 single base substitution A G 3_prime_UTR_variant GBM-US 19 41096902 41096902 single base substitution A G downstream_gene_variant GBM-US 19 41096902 41096902 single base substitution A G exon_variant GBM-US 19 41096902 41096902 single base substitution A G missense_variant N105S 314A>G GBM-US 19 41096902 41096902 single base substitution A G missense_variant N180S 539A>G GBM-US 19 41096902 41096902 single base substitution A G missense_variant N193S 578A>G GBM-US 19 41096902 41096902 single base substitution A G missense_variant N208S 623A>G GBM-US 19 41096902 41096902 single base substitution A G missense_variant N238S 713A>G GBM-US 19 41096902 41096902 single base substitution A G missense_variant N540S 1619A>G GBM-US 19 41096902 41096902 single base substitution A G missense_variant N613S 1838A>G GBM-US 19 41096902 41096902 single base substitution A G missense_variant N638S 1913A>G GBM-US 19 41096902 41096902 single base substitution A G missense_variant N73S 218A>G GBM-US 19 41096902 41096902 single base substitution A G missense_variant N94S 281A>G KIRC-US 19 41094601 41094601 single base substitution G A exon_variant KIRC-US 19 41094601 41094601 single base substitution G A intron_variant KIRC-US 19 41094601 41094601 single base substitution G A missense_variant G104S 310G>A KIRC-US 19 41094601 41094601 single base substitution G A missense_variant G118S 352G>A KIRC-US 19 41094601 41094601 single base substitution G A missense_variant G41S 121G>A KIRC-US 19 41094601 41094601 single base substitution G A missense_variant G445S 1333G>A KIRC-US 19 41094601 41094601 single base substitution G A missense_variant G464S 1390G>A KIRC-US 19 41094601 41094601 single base substitution G A missense_variant G470S 1408G>A KIRC-US 19 41094601 41094601 single base substitution G A missense_variant G70S 208G>A KIRC-US 19 41094601 41094601 single base substitution G A upstream_gene_variant LAML-KR 19 41094600 41094600 single base substitution C T exon_variant LAML-KR 19 41094600 41094600 single base substitution C T intron_variant LAML-KR 19 41094600 41094600 single base substitution C T synonymous_variant P103P 309C>T LAML-KR 19 41094600 41094600 single base substitution C T synonymous_variant P117P 351C>T LAML-KR 19 41094600 41094600 single base substitution C T synonymous_variant P40P 120C>T LAML-KR 19 41094600 41094600 single base substitution C T synonymous_variant P444P 1332C>T LAML-KR 19 41094600 41094600 single base substitution C T synonymous_variant P463P 1389C>T LAML-KR 19 41094600 41094600 single base substitution C T synonymous_variant P469P 1407C>T LAML-KR 19 41094600 41094600 single base substitution C T synonymous_variant P69P 207C>T LAML-KR 19 41094600 41094600 single base substitution C T upstream_gene_variant LAML-KR 19 41095447 41095447 single base substitution T G downstream_gene_variant LAML-KR 19 41095447 41095447 single base substitution T G intron_variant LAML-KR 19 41095447 41095447 single base substitution T G upstream_gene_variant LAML-KR 19 41098386 41098386 single base substitution G A downstream_gene_variant LGG-US 19 41094661 41094661 single base substitution G A exon_variant LGG-US 19 41094661 41094661 single base substitution G A intron_variant LGG-US 19 41094661 41094661 single base substitution G A missense_variant G124S 370G>A LGG-US 19 41094661 41094661 single base substitution G A missense_variant G138S 412G>A LGG-US 19 41094661 41094661 single base substitution G A missense_variant G465S 1393G>A LGG-US 19 41094661 41094661 single base substitution G A missense_variant G484S 1450G>A LGG-US 19 41094661 41094661 single base substitution G A missense_variant G490S 1468G>A LGG-US 19 41094661 41094661 single base substitution G A missense_variant G61S 181G>A LGG-US 19 41094661 41094661 single base substitution G A missense_variant G90S 268G>A LGG-US 19 41094661 41094661 single base substitution G A synonymous_variant A5A 15G>A LGG-US 19 41094661 41094661 single base substitution G A upstream_gene_variant LGG-US 19 41096328 41096328 single base substitution G A downstream_gene_variant LGG-US 19 41096328 41096328 single base substitution G A intron_variant LGG-US 19 41096328 41096328 single base substitution G A missense_variant A190T 568G>A LGG-US 19 41096328 41096328 single base substitution G A missense_variant A565T 1693G>A LGG-US 19 41096328 41096328 single base substitution G A missense_variant A590T 1768G>A LGG-US 19 41096328 41096328 single base substitution G A missense_variant G161S 481G>A LGG-US 19 41096328 41096328 single base substitution G A splice_region_variant LICA-CN 19 41086395 41086395 single base substitution C T downstream_gene_variant LICA-CN 19 41086395 41086395 single base substitution C T intron_variant LICA-CN 19 41086395 41086395 single base substitution C T splice_region_variant LICA-CN 19 41086395 41086395 single base substitution C T upstream_gene_variant LICA-CN 19 41086485 41086485 single base substitution G T 3_prime_UTR_variant LICA-CN 19 41086485 41086485 single base substitution G T downstream_gene_variant LICA-CN 19 41086485 41086485 single base substitution G T exon_variant LICA-CN 19 41086485 41086485 single base substitution G T missense_variant E115D 345G>T LICA-CN 19 41086485 41086485 single base substitution G T missense_variant E186D 558G>T LICA-CN 19 41086485 41086485 single base substitution G T missense_variant E192D 576G>T LICA-CN 19 41086485 41086485 single base substitution G T upstream_gene_variant LICA-CN 19 41088321 41088321 single base substitution A T downstream_gene_variant LICA-CN 19 41088321 41088321 single base substitution A T exon_variant LICA-CN 19 41088321 41088321 single base substitution A T intron_variant LICA-CN 19 41088321 41088321 single base substitution A T synonymous_variant T297T 891A>T LICA-CN 19 41088321 41088321 single base substitution A T synonymous_variant T303T 909A>T LICA-CN 19 41088321 41088321 single base substitution A T upstream_gene_variant LICA-CN 19 41092686 41092686 single base substitution G T downstream_gene_variant LICA-CN 19 41092686 41092686 single base substitution G T exon_variant LICA-CN 19 41092686 41092686 single base substitution G T intron_variant LICA-CN 19 41092686 41092686 single base substitution G T missense_variant S25I 74G>T LICA-CN 19 41092686 41092686 single base substitution G T missense_variant S2I 5G>T LICA-CN 19 41092686 41092686 single base substitution G T missense_variant S366I 1097G>T LICA-CN 19 41092686 41092686 single base substitution G T missense_variant S385I 1154G>T LICA-CN 19 41092686 41092686 single base substitution G T missense_variant S391I 1172G>T LICA-CN 19 41092686 41092686 single base substitution G T missense_variant S39I 116G>T LICA-CN 19 41092686 41092686 single base substitution G T upstream_gene_variant LICA-FR 19 41080052 41080052 single base substitution A G upstream_gene_variant LICA-FR 19 41092771 41092771 single base substitution G A downstream_gene_variant LICA-FR 19 41092771 41092771 single base substitution G A exon_variant LICA-FR 19 41092771 41092771 single base substitution G A intron_variant LICA-FR 19 41092771 41092771 single base substitution G A synonymous_variant G30G 90G>A LICA-FR 19 41092771 41092771 single base substitution G A synonymous_variant G394G 1182G>A LICA-FR 19 41092771 41092771 single base substitution G A synonymous_variant G413G 1239G>A LICA-FR 19 41092771 41092771 single base substitution G A synonymous_variant G419G 1257G>A LICA-FR 19 41092771 41092771 single base substitution G A synonymous_variant G53G 159G>A LICA-FR 19 41092771 41092771 single base substitution G A synonymous_variant G67G 201G>A LICA-FR 19 41092771 41092771 single base substitution G A upstream_gene_variant LICA-FR 19 41095322 41095322 single base substitution A G downstream_gene_variant LICA-FR 19 41095322 41095322 single base substitution A G intron_variant LICA-FR 19 41095322 41095322 single base substitution A G upstream_gene_variant LIHC-US 19 41089323 41089323 single base substitution T A downstream_gene_variant LIHC-US 19 41089323 41089323 single base substitution T A exon_variant LIHC-US 19 41089323 41089323 single base substitution T A missense_variant I302N 905T>A LIHC-US 19 41089323 41089323 single base substitution T A missense_variant I321N 962T>A LIHC-US 19 41089323 41089323 single base substitution T A missense_variant I327N 980T>A LIHC-US 19 41089323 41089323 single base substitution T A upstream_gene_variant LIHC-US 19 41089577 41089577 single base substitution G A downstream_gene_variant LIHC-US 19 41089577 41089577 single base substitution G A exon_variant LIHC-US 19 41089577 41089577 single base substitution G A synonymous_variant A21A 63G>A LIHC-US 19 41089577 41089577 single base substitution G A synonymous_variant A30A 90G>A LIHC-US 19 41089577 41089577 single base substitution G A synonymous_variant A348A 1044G>A LIHC-US 19 41089577 41089577 single base substitution G A synonymous_variant A367A 1101G>A LIHC-US 19 41089577 41089577 single base substitution G A synonymous_variant A373A 1119G>A LIHC-US 19 41089577 41089577 single base substitution G A synonymous_variant A7A 21G>A LIHC-US 19 41089577 41089577 single base substitution G A upstream_gene_variant LIHC-US 19 41096160 41096160 single base substitution G T downstream_gene_variant LIHC-US 19 41096160 41096160 single base substitution G T exon_variant LIHC-US 19 41096160 41096160 single base substitution G T intron_variant LIHC-US 19 41096160 41096160 single base substitution G T missense_variant V105L 313G>T LIHC-US 19 41096160 41096160 single base substitution G T missense_variant V134L 400G>T LIHC-US 19 41096160 41096160 single base substitution G T missense_variant V509L 1525G>T LIHC-US 19 41096160 41096160 single base substitution G T missense_variant V534L 1600G>T LINC-JP 19 41092945 41092945 single base substitution G A downstream_gene_variant LINC-JP 19 41092945 41092945 single base substitution G A intron_variant LINC-JP 19 41092945 41092945 single base substitution G A upstream_gene_variant LINC-JP 19 41094647 41094647 single base substitution C G exon_variant LINC-JP 19 41094647 41094647 single base substitution C G intron_variant LINC-JP 19 41094647 41094647 single base substitution C G missense_variant A119G 356C>G LINC-JP 19 41094647 41094647 single base substitution C G missense_variant A133G 398C>G LINC-JP 19 41094647 41094647 single base substitution C G missense_variant A460G 1379C>G LINC-JP 19 41094647 41094647 single base substitution C G missense_variant A479G 1436C>G LINC-JP 19 41094647 41094647 single base substitution C G missense_variant A485G 1454C>G LINC-JP 19 41094647 41094647 single base substitution C G missense_variant A56G 167C>G LINC-JP 19 41094647 41094647 single base substitution C G missense_variant A85G 254C>G LINC-JP 19 41094647 41094647 single base substitution C G missense_variant Q1E 1C>G LINC-JP 19 41094647 41094647 single base substitution C G upstream_gene_variant LINC-JP 19 41094927 41094927 single base substitution A T downstream_gene_variant LINC-JP 19 41094927 41094927 single base substitution A T intron_variant LINC-JP 19 41094927 41094927 single base substitution A T upstream_gene_variant LINC-JP 19 41095117 41095117 single base substitution A T downstream_gene_variant LINC-JP 19 41095117 41095117 single base substitution A T intron_variant LINC-JP 19 41095117 41095117 single base substitution A T upstream_gene_variant LINC-JP 19 41096301 41096301 single base substitution G A downstream_gene_variant LINC-JP 19 41096301 41096301 single base substitution G A exon_variant LINC-JP 19 41096301 41096301 single base substitution G A intron_variant LINC-JP 19 41096301 41096301 single base substitution G A missense_variant A152T 454G>A LINC-JP 19 41096301 41096301 single base substitution G A missense_variant A181T 541G>A LINC-JP 19 41096301 41096301 single base substitution G A missense_variant A556T 1666G>A LINC-JP 19 41096301 41096301 single base substitution G A missense_variant A581T 1741G>A LINC-JP 19 41097193 41097193 single base substitution G A 3_prime_UTR_variant LINC-JP 19 41097193 41097193 single base substitution G A downstream_gene_variant LINC-JP 19 41097193 41097193 single base substitution G A exon_variant LIRI-JP 19 41077894 41077894 single base substitution C G upstream_gene_variant LIRI-JP 19 41079546 41079546 single base substitution G A upstream_gene_variant LIRI-JP 19 41079774 41079774 single base substitution G A upstream_gene_variant LIRI-JP 19 41081391 41081391 single base substitution G T upstream_gene_variant LIRI-JP 19 41084572 41084572 single base substitution A C downstream_gene_variant LIRI-JP 19 41084572 41084572 single base substitution A C intron_variant LIRI-JP 19 41084572 41084572 single base substitution A C upstream_gene_variant LIRI-JP 19 41086845 41086845 single base substitution A T downstream_gene_variant LIRI-JP 19 41086845 41086845 single base substitution A T intron_variant LIRI-JP 19 41086845 41086845 single base substitution A T splice_region_variant LIRI-JP 19 41086845 41086845 single base substitution A T upstream_gene_variant LIRI-JP 19 41086993 41086993 single base substitution C T downstream_gene_variant LIRI-JP 19 41086993 41086993 single base substitution C T intron_variant LIRI-JP 19 41086993 41086993 single base substitution C T upstream_gene_variant LIRI-JP 19 41087763 41087763 single base substitution A G downstream_gene_variant LIRI-JP 19 41087763 41087763 single base substitution A G intron_variant LIRI-JP 19 41087763 41087763 single base substitution A G upstream_gene_variant LIRI-JP 19 41090535 41090535 single base substitution T C downstream_gene_variant LIRI-JP 19 41090535 41090535 single base substitution T C intron_variant LIRI-JP 19 41090535 41090535 single base substitution T C upstream_gene_variant LIRI-JP 19 41092988 41092988 single base substitution G C downstream_gene_variant LIRI-JP 19 41092988 41092988 single base substitution G C intron_variant LIRI-JP 19 41092988 41092988 single base substitution G C upstream_gene_variant LIRI-JP 19 41095922 41095922 single base substitution G T downstream_gene_variant LIRI-JP 19 41095922 41095922 single base substitution G T intron_variant LIRI-JP 19 41095922 41095922 single base substitution G T upstream_gene_variant LIRI-JP 19 41098835 41098835 single base substitution G A downstream_gene_variant LIRI-JP 19 41099098 41099098 single base substitution C T downstream_gene_variant LIRI-JP 19 41100486 41100486 single base substitution G T downstream_gene_variant LUSC-KR 19 41079521 41079521 single base substitution G A upstream_gene_variant LUSC-KR 19 41079617 41079617 single base substitution G A upstream_gene_variant LUSC-KR 19 41081120 41081120 single base substitution G T upstream_gene_variant LUSC-KR 19 41083444 41083444 single base substitution C T exon_variant LUSC-KR 19 41083444 41083444 single base substitution C T intron_variant LUSC-KR 19 41083444 41083444 single base substitution C T upstream_gene_variant LUSC-KR 19 41084198 41084198 single base substitution C T downstream_gene_variant LUSC-KR 19 41084198 41084198 single base substitution C T exon_variant LUSC-KR 19 41084198 41084198 single base substitution C T intron_variant LUSC-KR 19 41084198 41084198 single base substitution C T upstream_gene_variant LUSC-KR 19 41092767 41092767 single base substitution C T downstream_gene_variant LUSC-KR 19 41092767 41092767 single base substitution C T exon_variant LUSC-KR 19 41092767 41092767 single base substitution C T intron_variant LUSC-KR 19 41092767 41092767 single base substitution C T missense_variant S29L 86C>T LUSC-KR 19 41092767 41092767 single base substitution C T missense_variant S393L 1178C>T LUSC-KR 19 41092767 41092767 single base substitution C T missense_variant S412L 1235C>T LUSC-KR 19 41092767 41092767 single base substitution C T missense_variant S418L 1253C>T LUSC-KR 19 41092767 41092767 single base substitution C T missense_variant S52L 155C>T LUSC-KR 19 41092767 41092767 single base substitution C T missense_variant S66L 197C>T LUSC-KR 19 41092767 41092767 single base substitution C T upstream_gene_variant LUSC-KR 19 41093124 41093124 single base substitution G A downstream_gene_variant LUSC-KR 19 41093124 41093124 single base substitution G A intron_variant LUSC-KR 19 41093124 41093124 single base substitution G A upstream_gene_variant LUSC-KR 19 41096261 41096261 single base substitution C A downstream_gene_variant LUSC-KR 19 41096261 41096261 single base substitution C A exon_variant LUSC-KR 19 41096261 41096261 single base substitution C A intron_variant LUSC-KR 19 41096261 41096261 single base substitution C A synonymous_variant G138G 414C>A LUSC-KR 19 41096261 41096261 single base substitution C A synonymous_variant G167G 501C>A LUSC-KR 19 41096261 41096261 single base substitution C A synonymous_variant G542G 1626C>A LUSC-KR 19 41096261 41096261 single base substitution C A synonymous_variant G567G 1701C>A LUSC-KR 19 41098837 41098837 single base substitution G T downstream_gene_variant LUSC-KR 19 41101300 41101300 single base substitution G A downstream_gene_variant LUSC-US 19 41077929 41077929 single base substitution T G upstream_gene_variant LUSC-US 19 41081468 41081468 single base substitution G T upstream_gene_variant LUSC-US 19 41083301 41083301 single base substitution G T exon_variant LUSC-US 19 41083301 41083301 single base substitution G T splice_acceptor_variant LUSC-US 19 41083301 41083301 single base substitution G T upstream_gene_variant LUSC-US 19 41086391 41086391 single base substitution G A downstream_gene_variant LUSC-US 19 41086391 41086391 single base substitution G A missense_variant G111R 331G>A LUSC-US 19 41086391 41086391 single base substitution G A missense_variant G182R 544G>A LUSC-US 19 41086391 41086391 single base substitution G A missense_variant G188R 562G>A LUSC-US 19 41086391 41086391 single base substitution G A splice_region_variant LUSC-US 19 41086391 41086391 single base substitution G A upstream_gene_variant LUSC-US 19 41086788 41086788 single base substitution G A downstream_gene_variant LUSC-US 19 41086788 41086788 single base substitution G A exon_variant LUSC-US 19 41086788 41086788 single base substitution G A missense_variant G258S 772G>A LUSC-US 19 41086788 41086788 single base substitution G A missense_variant G264S 790G>A LUSC-US 19 41086788 41086788 single base substitution G A upstream_gene_variant LUSC-US 19 41097083 41097083 single base substitution C T 3_prime_UTR_variant LUSC-US 19 41097083 41097083 single base substitution C T downstream_gene_variant LUSC-US 19 41097083 41097083 single base substitution C T exon_variant LUSC-US 19 41097083 41097083 single base substitution C T synonymous_variant P133P 399C>T LUSC-US 19 41097083 41097083 single base substitution C T synonymous_variant P154P 462C>T LUSC-US 19 41097083 41097083 single base substitution C T synonymous_variant P165P 495C>T LUSC-US 19 41097083 41097083 single base substitution C T synonymous_variant P240P 720C>T LUSC-US 19 41097083 41097083 single base substitution C T synonymous_variant P253P 759C>T LUSC-US 19 41097083 41097083 single base substitution C T synonymous_variant P268P 804C>T LUSC-US 19 41097083 41097083 single base substitution C T synonymous_variant P298P 894C>T LUSC-US 19 41097083 41097083 single base substitution C T synonymous_variant P600P 1800C>T LUSC-US 19 41097083 41097083 single base substitution C T synonymous_variant P673P 2019C>T LUSC-US 19 41097083 41097083 single base substitution C T synonymous_variant P698P 2094C>T MELA-AU 19 41077777 41077777 single base substitution G A upstream_gene_variant MELA-AU 19 41077838 41077838 single base substitution A G upstream_gene_variant MELA-AU 19 41078173 41078173 single base substitution G A upstream_gene_variant MELA-AU 19 41078216 41078216 single base substitution C T upstream_gene_variant MELA-AU 19 41078226 41078226 single base substitution C T upstream_gene_variant MELA-AU 19 41078308 41078308 single base substitution C T upstream_gene_variant MELA-AU 19 41078612 41078612 single base substitution C T upstream_gene_variant MELA-AU 19 41078613 41078613 single base substitution C T upstream_gene_variant MELA-AU 19 41078841 41078841 single base substitution G A upstream_gene_variant MELA-AU 19 41078843 41078843 single base substitution G T upstream_gene_variant MELA-AU 19 41078865 41078865 single base substitution G A upstream_gene_variant MELA-AU 19 41078987 41078987 single base substitution G A upstream_gene_variant MELA-AU 19 41079116 41079116 single base substitution G A upstream_gene_variant MELA-AU 19 41079170 41079170 single base substitution A T upstream_gene_variant MELA-AU 19 41079238 41079238 single base substitution G A upstream_gene_variant MELA-AU 19 41079424 41079424 single base substitution G A upstream_gene_variant MELA-AU 19 41079774 41079774 single base substitution G A upstream_gene_variant MELA-AU 19 41079787 41079787 single base substitution C T upstream_gene_variant MELA-AU 19 41079812 41079812 single base substitution C T upstream_gene_variant MELA-AU 19 41080062 41080062 single base substitution C T upstream_gene_variant MELA-AU 19 41080493 41080493 single base substitution C T upstream_gene_variant MELA-AU 19 41080733 41080733 single base substitution C T upstream_gene_variant MELA-AU 19 41080745 41080745 single base substitution A G upstream_gene_variant MELA-AU 19 41081289 41081289 single base substitution G A upstream_gene_variant MELA-AU 19 41081310 41081310 single base substitution C T upstream_gene_variant MELA-AU 19 41081327 41081328 multiple base substitution (>=2bp and <=200bp) AC TT upstream_gene_variant MELA-AU 19 41081510 41081510 single base substitution C T upstream_gene_variant MELA-AU 19 41081561 41081561 single base substitution G A upstream_gene_variant MELA-AU 19 41081746 41081746 single base substitution G A upstream_gene_variant MELA-AU 19 41081975 41081975 single base substitution C T upstream_gene_variant MELA-AU 19 41081983 41081983 single base substitution G A upstream_gene_variant MELA-AU 19 41082197 41082197 single base substitution G A upstream_gene_variant MELA-AU 19 41082242 41082242 single base substitution G A upstream_gene_variant MELA-AU 19 41082665 41082665 single base substitution G A upstream_gene_variant MELA-AU 19 41082693 41082693 single base substitution C T upstream_gene_variant MELA-AU 19 41082740 41082740 single base substitution C T upstream_gene_variant MELA-AU 19 41082745 41082745 single base substitution G A upstream_gene_variant MELA-AU 19 41082745 41082746 multiple base substitution (>=2bp and <=200bp) GA AC upstream_gene_variant MELA-AU 19 41082753 41082753 single base substitution G A upstream_gene_variant MELA-AU 19 41082755 41082755 single base substitution C T upstream_gene_variant MELA-AU 19 41082770 41082770 single base substitution G A 5_prime_UTR_variant MELA-AU 19 41082770 41082770 single base substitution G A upstream_gene_variant MELA-AU 19 41083078 41083078 single base substitution G A 5_prime_UTR_variant MELA-AU 19 41083078 41083078 single base substitution G A exon_variant MELA-AU 19 41083078 41083078 single base substitution G A intron_variant MELA-AU 19 41083078 41083078 single base substitution G A upstream_gene_variant MELA-AU 19 41083451 41083451 single base substitution C T exon_variant MELA-AU 19 41083451 41083451 single base substitution C T intron_variant MELA-AU 19 41083451 41083451 single base substitution C T upstream_gene_variant MELA-AU 19 41083623 41083623 single base substitution C T exon_variant MELA-AU 19 41083623 41083623 single base substitution C T intron_variant MELA-AU 19 41083623 41083623 single base substitution C T splice_region_variant MELA-AU 19 41083623 41083623 single base substitution C T upstream_gene_variant MELA-AU 19 41083628 41083628 single base substitution C T exon_variant MELA-AU 19 41083628 41083628 single base substitution C T intron_variant MELA-AU 19 41083628 41083628 single base substitution C T upstream_gene_variant MELA-AU 19 41083809 41083809 single base substitution G A exon_variant MELA-AU 19 41083809 41083809 single base substitution G A intron_variant MELA-AU 19 41083809 41083809 single base substitution G A upstream_gene_variant MELA-AU 19 41083911 41083911 single base substitution C T downstream_gene_variant MELA-AU 19 41083911 41083911 single base substitution C T intron_variant MELA-AU 19 41083911 41083911 single base substitution C T upstream_gene_variant MELA-AU 19 41084314 41084314 single base substitution T C downstream_gene_variant MELA-AU 19 41084314 41084314 single base substitution T C exon_variant MELA-AU 19 41084314 41084314 single base substitution T C intron_variant MELA-AU 19 41084314 41084314 single base substitution T C upstream_gene_variant MELA-AU 19 41084355 41084355 single base substitution C T downstream_gene_variant MELA-AU 19 41084355 41084355 single base substitution C T exon_variant MELA-AU 19 41084355 41084355 single base substitution C T intron_variant MELA-AU 19 41084355 41084355 single base substitution C T splice_region_variant MELA-AU 19 41084355 41084355 single base substitution C T upstream_gene_variant MELA-AU 19 41084674 41084674 single base substitution C A downstream_gene_variant MELA-AU 19 41084674 41084674 single base substitution C A intron_variant MELA-AU 19 41084674 41084674 single base substitution C A upstream_gene_variant MELA-AU 19 41085453 41085453 single base substitution C T downstream_gene_variant MELA-AU 19 41085453 41085453 single base substitution C T intron_variant MELA-AU 19 41085453 41085453 single base substitution C T upstream_gene_variant MELA-AU 19 41085735 41085735 single base substitution C T downstream_gene_variant MELA-AU 19 41085735 41085735 single base substitution C T intron_variant MELA-AU 19 41085735 41085735 single base substitution C T upstream_gene_variant MELA-AU 19 41086331 41086331 single base substitution C T 3_prime_UTR_variant MELA-AU 19 41086331 41086331 single base substitution C T downstream_gene_variant MELA-AU 19 41086331 41086331 single base substitution C T exon_variant MELA-AU 19 41086331 41086331 single base substitution C T missense_variant L162F 484C>T MELA-AU 19 41086331 41086331 single base substitution C T missense_variant L168F 502C>T MELA-AU 19 41086331 41086331 single base substitution C T missense_variant L91F 271C>T MELA-AU 19 41086331 41086331 single base substitution C T upstream_gene_variant MELA-AU 19 41086464 41086464 single base substitution C T downstream_gene_variant MELA-AU 19 41086464 41086464 single base substitution C T intron_variant MELA-AU 19 41086464 41086464 single base substitution C T splice_region_variant MELA-AU 19 41086464 41086464 single base substitution C T upstream_gene_variant MELA-AU 19 41086527 41086527 single base substitution C T 3_prime_UTR_variant MELA-AU 19 41086527 41086527 single base substitution C T downstream_gene_variant MELA-AU 19 41086527 41086527 single base substitution C T exon_variant MELA-AU 19 41086527 41086527 single base substitution C T synonymous_variant I129I 387C>T MELA-AU 19 41086527 41086527 single base substitution C T synonymous_variant I200I 600C>T MELA-AU 19 41086527 41086527 single base substitution C T synonymous_variant I206I 618C>T MELA-AU 19 41086527 41086527 single base substitution C T upstream_gene_variant MELA-AU 19 41087595 41087595 single base substitution C T downstream_gene_variant MELA-AU 19 41087595 41087595 single base substitution C T intron_variant MELA-AU 19 41087595 41087595 single base substitution C T upstream_gene_variant MELA-AU 19 41088406 41088406 single base substitution C T downstream_gene_variant MELA-AU 19 41088406 41088406 single base substitution C T exon_variant MELA-AU 19 41088406 41088406 single base substitution C T intron_variant MELA-AU 19 41088406 41088406 single base substitution C T upstream_gene_variant MELA-AU 19 41089548 41089548 single base substitution C T downstream_gene_variant MELA-AU 19 41089548 41089548 single base substitution C T exon_variant MELA-AU 19 41089548 41089548 single base substitution C T missense_variant L12F 34C>T MELA-AU 19 41089548 41089548 single base substitution C T missense_variant L21F 61C>T MELA-AU 19 41089548 41089548 single base substitution C T missense_variant L339F 1015C>T MELA-AU 19 41089548 41089548 single base substitution C T missense_variant L358F 1072C>T MELA-AU 19 41089548 41089548 single base substitution C T missense_variant L364F 1090C>T MELA-AU 19 41089548 41089548 single base substitution C T upstream_gene_variant MELA-AU 19 41089972 41089973 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 19 41089972 41089973 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 19 41089972 41089973 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 19 41090139 41090139 single base substitution C T downstream_gene_variant MELA-AU 19 41090139 41090139 single base substitution C T intron_variant MELA-AU 19 41090139 41090139 single base substitution C T upstream_gene_variant MELA-AU 19 41090886 41090886 single base substitution C T downstream_gene_variant MELA-AU 19 41090886 41090886 single base substitution C T intron_variant MELA-AU 19 41090886 41090886 single base substitution C T upstream_gene_variant MELA-AU 19 41091047 41091047 single base substitution C T downstream_gene_variant MELA-AU 19 41091047 41091047 single base substitution C T intron_variant MELA-AU 19 41091047 41091047 single base substitution C T upstream_gene_variant MELA-AU 19 41091230 41091230 single base substitution C T downstream_gene_variant MELA-AU 19 41091230 41091230 single base substitution C T intron_variant MELA-AU 19 41091230 41091230 single base substitution C T upstream_gene_variant MELA-AU 19 41091744 41091744 single base substitution C T downstream_gene_variant MELA-AU 19 41091744 41091744 single base substitution C T intron_variant MELA-AU 19 41091744 41091744 single base substitution C T upstream_gene_variant MELA-AU 19 41091786 41091786 single base substitution C T downstream_gene_variant MELA-AU 19 41091786 41091786 single base substitution C T intron_variant MELA-AU 19 41091786 41091786 single base substitution C T upstream_gene_variant MELA-AU 19 41092138 41092138 single base substitution G A downstream_gene_variant MELA-AU 19 41092138 41092138 single base substitution G A intron_variant MELA-AU 19 41092138 41092138 single base substitution G A upstream_gene_variant MELA-AU 19 41092150 41092150 single base substitution C T downstream_gene_variant MELA-AU 19 41092150 41092150 single base substitution C T intron_variant MELA-AU 19 41092150 41092150 single base substitution C T upstream_gene_variant MELA-AU 19 41092754 41092754 single base substitution G A downstream_gene_variant MELA-AU 19 41092754 41092754 single base substitution G A exon_variant MELA-AU 19 41092754 41092754 single base substitution G A intron_variant MELA-AU 19 41092754 41092754 single base substitution G A missense_variant E25K 73G>A MELA-AU 19 41092754 41092754 single base substitution G A missense_variant E389K 1165G>A MELA-AU 19 41092754 41092754 single base substitution G A missense_variant E408K 1222G>A MELA-AU 19 41092754 41092754 single base substitution G A missense_variant E414K 1240G>A MELA-AU 19 41092754 41092754 single base substitution G A missense_variant E48K 142G>A MELA-AU 19 41092754 41092754 single base substitution G A missense_variant E62K 184G>A MELA-AU 19 41092754 41092754 single base substitution G A upstream_gene_variant MELA-AU 19 41092927 41092927 single base substitution C T downstream_gene_variant MELA-AU 19 41092927 41092927 single base substitution C T intron_variant MELA-AU 19 41092927 41092927 single base substitution C T upstream_gene_variant MELA-AU 19 41092928 41092928 single base substitution C T downstream_gene_variant MELA-AU 19 41092928 41092928 single base substitution C T intron_variant MELA-AU 19 41092928 41092928 single base substitution C T upstream_gene_variant MELA-AU 19 41093293 41093293 single base substitution C T downstream_gene_variant MELA-AU 19 41093293 41093293 single base substitution C T intron_variant MELA-AU 19 41093293 41093293 single base substitution C T upstream_gene_variant MELA-AU 19 41093744 41093744 single base substitution G A intron_variant MELA-AU 19 41093744 41093744 single base substitution G A upstream_gene_variant MELA-AU 19 41094725 41094725 single base substitution C T downstream_gene_variant MELA-AU 19 41094725 41094725 single base substitution C T intron_variant MELA-AU 19 41094725 41094725 single base substitution C T upstream_gene_variant MELA-AU 19 41094990 41094990 single base substitution C T downstream_gene_variant MELA-AU 19 41094990 41094990 single base substitution C T intron_variant MELA-AU 19 41094990 41094990 single base substitution C T missense_variant P474S 1420C>T MELA-AU 19 41094990 41094990 single base substitution C T missense_variant P499S 1495C>T MELA-AU 19 41094990 41094990 single base substitution C T missense_variant P70S 208C>T MELA-AU 19 41094990 41094990 single base substitution C T missense_variant P99S 295C>T MELA-AU 19 41094990 41094990 single base substitution C T splice_region_variant MELA-AU 19 41094990 41094990 single base substitution C T upstream_gene_variant MELA-AU 19 41095904 41095904 single base substitution G A downstream_gene_variant MELA-AU 19 41095904 41095904 single base substitution G A intron_variant MELA-AU 19 41095904 41095904 single base substitution G A upstream_gene_variant MELA-AU 19 41096183 41096183 single base substitution C T downstream_gene_variant MELA-AU 19 41096183 41096183 single base substitution C T exon_variant MELA-AU 19 41096183 41096183 single base substitution C T intron_variant MELA-AU 19 41096183 41096183 single base substitution C T synonymous_variant P112P 336C>T MELA-AU 19 41096183 41096183 single base substitution C T synonymous_variant P141P 423C>T MELA-AU 19 41096183 41096183 single base substitution C T synonymous_variant P516P 1548C>T MELA-AU 19 41096183 41096183 single base substitution C T synonymous_variant P541P 1623C>T MELA-AU 19 41096224 41096224 single base substitution G A downstream_gene_variant MELA-AU 19 41096224 41096224 single base substitution G A exon_variant MELA-AU 19 41096224 41096224 single base substitution G A intron_variant MELA-AU 19 41096224 41096224 single base substitution G A missense_variant R126Q 377G>A MELA-AU 19 41096224 41096224 single base substitution G A missense_variant R155Q 464G>A MELA-AU 19 41096224 41096224 single base substitution G A missense_variant R530Q 1589G>A MELA-AU 19 41096224 41096224 single base substitution G A missense_variant R555Q 1664G>A MELA-AU 19 41096389 41096389 single base substitution C T downstream_gene_variant MELA-AU 19 41096389 41096389 single base substitution C T intron_variant MELA-AU 19 41096415 41096415 single base substitution C T downstream_gene_variant MELA-AU 19 41096415 41096415 single base substitution C T intron_variant MELA-AU 19 41096442 41096442 single base substitution C T downstream_gene_variant MELA-AU 19 41096442 41096442 single base substitution C T intron_variant MELA-AU 19 41096443 41096443 single base substitution C T downstream_gene_variant MELA-AU 19 41096443 41096443 single base substitution C T intron_variant MELA-AU 19 41096469 41096469 single base substitution C T downstream_gene_variant MELA-AU 19 41096469 41096469 single base substitution C T intron_variant MELA-AU 19 41096707 41096707 single base substitution G A 3_prime_UTR_variant MELA-AU 19 41096707 41096707 single base substitution G A downstream_gene_variant MELA-AU 19 41096707 41096707 single base substitution G A exon_variant MELA-AU 19 41096707 41096707 single base substitution G A missense_variant A156T 466G>A MELA-AU 19 41096707 41096707 single base substitution G A missense_variant A169T 505G>A MELA-AU 19 41096707 41096707 single base substitution G A missense_variant A184T 550G>A MELA-AU 19 41096707 41096707 single base substitution G A missense_variant A214T 640G>A MELA-AU 19 41096707 41096707 single base substitution G A missense_variant A49T 145G>A MELA-AU 19 41096707 41096707 single base substitution G A missense_variant A516T 1546G>A MELA-AU 19 41096707 41096707 single base substitution G A missense_variant A589T 1765G>A MELA-AU 19 41096707 41096707 single base substitution G A missense_variant A614T 1840G>A MELA-AU 19 41096707 41096707 single base substitution G A missense_variant A70T 208G>A MELA-AU 19 41096707 41096707 single base substitution G A missense_variant A81T 241G>A MELA-AU 19 41096896 41096896 single base substitution C T 3_prime_UTR_variant MELA-AU 19 41096896 41096896 single base substitution C T downstream_gene_variant MELA-AU 19 41096896 41096896 single base substitution C T exon_variant MELA-AU 19 41096896 41096896 single base substitution C T missense_variant S103F 308C>T MELA-AU 19 41096896 41096896 single base substitution C T missense_variant S178F 533C>T MELA-AU 19 41096896 41096896 single base substitution C T missense_variant S191F 572C>T MELA-AU 19 41096896 41096896 single base substitution C T missense_variant S206F 617C>T MELA-AU 19 41096896 41096896 single base substitution C T missense_variant S236F 707C>T MELA-AU 19 41096896 41096896 single base substitution C T missense_variant S538F 1613C>T MELA-AU 19 41096896 41096896 single base substitution C T missense_variant S611F 1832C>T MELA-AU 19 41096896 41096896 single base substitution C T missense_variant S636F 1907C>T MELA-AU 19 41096896 41096896 single base substitution C T missense_variant S71F 212C>T MELA-AU 19 41096896 41096896 single base substitution C T missense_variant S92F 275C>T MELA-AU 19 41096908 41096908 single base substitution C T 3_prime_UTR_variant MELA-AU 19 41096908 41096908 single base substitution C T downstream_gene_variant MELA-AU 19 41096908 41096908 single base substitution C T exon_variant MELA-AU 19 41096908 41096908 single base substitution C T missense_variant S107F 320C>T MELA-AU 19 41096908 41096908 single base substitution C T missense_variant S182F 545C>T MELA-AU 19 41096908 41096908 single base substitution C T missense_variant S195F 584C>T MELA-AU 19 41096908 41096908 single base substitution C T missense_variant S210F 629C>T MELA-AU 19 41096908 41096908 single base substitution C T missense_variant S240F 719C>T MELA-AU 19 41096908 41096908 single base substitution C T missense_variant S542F 1625C>T MELA-AU 19 41096908 41096908 single base substitution C T missense_variant S615F 1844C>T MELA-AU 19 41096908 41096908 single base substitution C T missense_variant S640F 1919C>T MELA-AU 19 41096908 41096908 single base substitution C T missense_variant S75F 224C>T MELA-AU 19 41096908 41096908 single base substitution C T missense_variant S96F 287C>T MELA-AU 19 41096986 41096987 multiple base substitution (>=2bp and <=200bp) GC AT 3_prime_UTR_variant MELA-AU 19 41096986 41096987 multiple base substitution (>=2bp and <=200bp) GC AT downstream_gene_variant MELA-AU 19 41096986 41096987 multiple base substitution (>=2bp and <=200bp) GC AT exon_variant MELA-AU 19 41096986 41096987 multiple base substitution (>=2bp and <=200bp) GC AT missense_variant R101H 302GC>AT MELA-AU 19 41096986 41096987 multiple base substitution (>=2bp and <=200bp) GC AT missense_variant R122H 365GC>AT MELA-AU 19 41096986 41096987 multiple base substitution (>=2bp and <=200bp) GC AT missense_variant R133H 398GC>AT MELA-AU 19 41096986 41096987 multiple base substitution (>=2bp and <=200bp) GC AT missense_variant R208H 623GC>AT MELA-AU 19 41096986 41096987 multiple base substitution (>=2bp and <=200bp) GC AT missense_variant R221H 662GC>AT MELA-AU 19 41096986 41096987 multiple base substitution (>=2bp and <=200bp) GC AT missense_variant R236H 707GC>AT MELA-AU 19 41096986 41096987 multiple base substitution (>=2bp and <=200bp) GC AT missense_variant R266H 797GC>AT MELA-AU 19 41096986 41096987 multiple base substitution (>=2bp and <=200bp) GC AT missense_variant R568H 1703GC>AT MELA-AU 19 41096986 41096987 multiple base substitution (>=2bp and <=200bp) GC AT missense_variant R641H 1922GC>AT MELA-AU 19 41096986 41096987 multiple base substitution (>=2bp and <=200bp) GC AT missense_variant R666H 1997GC>AT MELA-AU 19 41097095 41097095 single base substitution C T 3_prime_UTR_variant MELA-AU 19 41097095 41097095 single base substitution C T downstream_gene_variant MELA-AU 19 41097095 41097095 single base substitution C T exon_variant MELA-AU 19 41097095 41097095 single base substitution C T synonymous_variant L137L 411C>T MELA-AU 19 41097095 41097095 single base substitution C T synonymous_variant L158L 474C>T MELA-AU 19 41097095 41097095 single base substitution C T synonymous_variant L169L 507C>T MELA-AU 19 41097095 41097095 single base substitution C T synonymous_variant L244L 732C>T MELA-AU 19 41097095 41097095 single base substitution C T synonymous_variant L257L 771C>T MELA-AU 19 41097095 41097095 single base substitution C T synonymous_variant L272L 816C>T MELA-AU 19 41097095 41097095 single base substitution C T synonymous_variant L604L 1812C>T MELA-AU 19 41097095 41097095 single base substitution C T synonymous_variant L677L 2031C>T MELA-AU 19 41097095 41097095 single base substitution C T synonymous_variant L702L 2106C>T MELA-AU 19 41097209 41097210 multiple base substitution (>=2bp and <=200bp) CC TT 3_prime_UTR_variant MELA-AU 19 41097209 41097210 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 19 41097209 41097210 multiple base substitution (>=2bp and <=200bp) CC TT exon_variant MELA-AU 19 41097372 41097372 single base substitution C T downstream_gene_variant MELA-AU 19 41097818 41097818 single base substitution C T downstream_gene_variant MELA-AU 19 41098724 41098724 single base substitution G A downstream_gene_variant MELA-AU 19 41098932 41098932 single base substitution G A downstream_gene_variant MELA-AU 19 41099152 41099152 single base substitution T G downstream_gene_variant MELA-AU 19 41099376 41099376 single base substitution C T downstream_gene_variant MELA-AU 19 41099515 41099515 single base substitution G A downstream_gene_variant MELA-AU 19 41099704 41099704 single base substitution T C downstream_gene_variant MELA-AU 19 41099891 41099891 single base substitution G A downstream_gene_variant MELA-AU 19 41099949 41099949 single base substitution C T downstream_gene_variant MELA-AU 19 41100293 41100293 single base substitution G A downstream_gene_variant MELA-AU 19 41100477 41100477 single base substitution G A downstream_gene_variant MELA-AU 19 41101057 41101057 single base substitution C T downstream_gene_variant MELA-AU 19 41101359 41101359 single base substitution C T downstream_gene_variant MELA-AU 19 41101396 41101396 single base substitution T A downstream_gene_variant MELA-AU 19 41101440 41101440 single base substitution C T downstream_gene_variant MELA-AU 19 41101540 41101540 single base substitution G A downstream_gene_variant MELA-AU 19 41101608 41101609 deletion of <=200bp CT - downstream_gene_variant MELA-AU 19 41101613 41101614 multiple base substitution (>=2bp and <=200bp) TT AA downstream_gene_variant MELA-AU 19 41101992 41101992 single base substitution A G downstream_gene_variant ORCA-IN 19 41084823 41084823 single base substitution C G downstream_gene_variant ORCA-IN 19 41084823 41084823 single base substitution C G intron_variant ORCA-IN 19 41084823 41084823 single base substitution C G upstream_gene_variant OV-AU 19 41086269 41086269 single base substitution G C 3_prime_UTR_variant OV-AU 19 41086269 41086269 single base substitution G C downstream_gene_variant OV-AU 19 41086269 41086269 single base substitution G C exon_variant OV-AU 19 41086269 41086269 single base substitution G C missense_variant G141A 422G>C OV-AU 19 41086269 41086269 single base substitution G C missense_variant G147A 440G>C OV-AU 19 41086269 41086269 single base substitution G C missense_variant G70A 209G>C OV-AU 19 41086269 41086269 single base substitution G C upstream_gene_variant OV-AU 19 41091656 41091656 single base substitution G T downstream_gene_variant OV-AU 19 41091656 41091656 single base substitution G T exon_variant OV-AU 19 41091656 41091656 single base substitution G T intron_variant OV-AU 19 41091656 41091656 single base substitution G T upstream_gene_variant OV-AU 19 41096693 41096693 single base substitution C T 3_prime_UTR_variant OV-AU 19 41096693 41096693 single base substitution C T downstream_gene_variant OV-AU 19 41096693 41096693 single base substitution C T exon_variant OV-AU 19 41096693 41096693 single base substitution C T missense_variant P151L 452C>T OV-AU 19 41096693 41096693 single base substitution C T missense_variant P164L 491C>T OV-AU 19 41096693 41096693 single base substitution C T missense_variant P179L 536C>T OV-AU 19 41096693 41096693 single base substitution C T missense_variant P209L 626C>T OV-AU 19 41096693 41096693 single base substitution C T missense_variant P44L 131C>T OV-AU 19 41096693 41096693 single base substitution C T missense_variant P511L 1532C>T OV-AU 19 41096693 41096693 single base substitution C T missense_variant P584L 1751C>T OV-AU 19 41096693 41096693 single base substitution C T missense_variant P609L 1826C>T OV-AU 19 41096693 41096693 single base substitution C T missense_variant P65L 194C>T OV-AU 19 41096693 41096693 single base substitution C T missense_variant P76L 227C>T OV-US 19 41089374 41089374 single base substitution G C downstream_gene_variant OV-US 19 41089374 41089374 single base substitution G C exon_variant OV-US 19 41089374 41089374 single base substitution G C missense_variant G1A 2G>C OV-US 19 41089374 41089374 single base substitution G C missense_variant G319A 956G>C OV-US 19 41089374 41089374 single base substitution G C missense_variant G338A 1013G>C OV-US 19 41089374 41089374 single base substitution G C missense_variant G344A 1031G>C OV-US 19 41089374 41089374 single base substitution G C upstream_gene_variant PACA-AU 19 41078592 41078592 single base substitution C T upstream_gene_variant PACA-AU 19 41078915 41078915 deletion of <=200bp A - upstream_gene_variant PACA-AU 19 41082027 41082027 single base substitution G T upstream_gene_variant PACA-AU 19 41083441 41083441 single base substitution C T exon_variant PACA-AU 19 41083441 41083441 single base substitution C T intron_variant PACA-AU 19 41083441 41083441 single base substitution C T upstream_gene_variant PACA-AU 19 41085687 41085687 single base substitution C G downstream_gene_variant PACA-AU 19 41085687 41085687 single base substitution C G intron_variant PACA-AU 19 41085687 41085687 single base substitution C G upstream_gene_variant PACA-AU 19 41089383 41089383 single base substitution A G downstream_gene_variant PACA-AU 19 41089383 41089383 single base substitution A G exon_variant PACA-AU 19 41089383 41089383 single base substitution A G missense_variant Y322C 965A>G PACA-AU 19 41089383 41089383 single base substitution A G missense_variant Y341C 1022A>G PACA-AU 19 41089383 41089383 single base substitution A G missense_variant Y347C 1040A>G PACA-AU 19 41089383 41089383 single base substitution A G missense_variant Y4C 11A>G PACA-AU 19 41089383 41089383 single base substitution A G upstream_gene_variant PACA-AU 19 41091505 41091505 single base substitution G A downstream_gene_variant PACA-AU 19 41091505 41091505 single base substitution G A exon_variant PACA-AU 19 41091505 41091505 single base substitution G A intron_variant PACA-AU 19 41091505 41091505 single base substitution G A upstream_gene_variant PACA-AU 19 41093957 41093957 single base substitution A T intron_variant PACA-AU 19 41093957 41093957 single base substitution A T upstream_gene_variant PACA-AU 19 41096004 41096004 single base substitution T C downstream_gene_variant PACA-AU 19 41096004 41096004 single base substitution T C intron_variant PACA-AU 19 41096004 41096004 single base substitution T C upstream_gene_variant PACA-AU 19 41096477 41096477 single base substitution C T downstream_gene_variant PACA-AU 19 41096477 41096477 single base substitution C T intron_variant PACA-AU 19 41096643 41096643 single base substitution C T downstream_gene_variant PACA-AU 19 41096643 41096643 single base substitution C T exon_variant PACA-AU 19 41096643 41096643 single base substitution C T synonymous_variant G134G 402C>T PACA-AU 19 41096643 41096643 single base substitution C T synonymous_variant G147G 441C>T PACA-AU 19 41096643 41096643 single base substitution C T synonymous_variant G162G 486C>T PACA-AU 19 41096643 41096643 single base substitution C T synonymous_variant G192G 576C>T PACA-AU 19 41096643 41096643 single base substitution C T synonymous_variant G27G 81C>T PACA-AU 19 41096643 41096643 single base substitution C T synonymous_variant G48G 144C>T PACA-AU 19 41096643 41096643 single base substitution C T synonymous_variant G494G 1482C>T PACA-AU 19 41096643 41096643 single base substitution C T synonymous_variant G567G 1701C>T PACA-AU 19 41096643 41096643 single base substitution C T synonymous_variant G592G 1776C>T PACA-AU 19 41096643 41096643 single base substitution C T synonymous_variant G59G 177C>T PACA-CA 19 41078311 41078311 single base substitution C G upstream_gene_variant PACA-CA 19 41078619 41078619 single base substitution C T upstream_gene_variant PACA-CA 19 41084117 41084117 single base substitution G T downstream_gene_variant PACA-CA 19 41084117 41084117 single base substitution G T exon_variant PACA-CA 19 41084117 41084117 single base substitution G T intron_variant PACA-CA 19 41084117 41084117 single base substitution G T splice_region_variant PACA-CA 19 41084117 41084117 single base substitution G T upstream_gene_variant PACA-CA 19 41084994 41084994 insertion of <=200bp - A downstream_gene_variant PACA-CA 19 41084994 41084994 insertion of <=200bp - A intron_variant PACA-CA 19 41084994 41084994 insertion of <=200bp - A upstream_gene_variant PACA-CA 19 41088342 41088342 single base substitution G T downstream_gene_variant PACA-CA 19 41088342 41088342 single base substitution G T exon_variant PACA-CA 19 41088342 41088342 single base substitution G T synonymous_variant G285G 855G>T PACA-CA 19 41088342 41088342 single base substitution G T synonymous_variant G304G 912G>T PACA-CA 19 41088342 41088342 single base substitution G T synonymous_variant G310G 930G>T PACA-CA 19 41088342 41088342 single base substitution G T upstream_gene_variant PACA-CA 19 41097457 41097457 single base substitution A T downstream_gene_variant PACA-CA 19 41097672 41097672 single base substitution A T downstream_gene_variant PAEN-AU 19 41088455 41088455 single base substitution A C downstream_gene_variant PAEN-AU 19 41088455 41088455 single base substitution A C intron_variant PAEN-AU 19 41088455 41088455 single base substitution A C upstream_gene_variant PAEN-IT 19 41095792 41095792 single base substitution C T downstream_gene_variant PAEN-IT 19 41095792 41095792 single base substitution C T intron_variant PAEN-IT 19 41095792 41095792 single base substitution C T upstream_gene_variant PBCA-DE 19 41078123 41078123 single base substitution G C upstream_gene_variant PBCA-DE 19 41079024 41079024 single base substitution G T upstream_gene_variant PBCA-DE 19 41095195 41095195 single base substitution C T downstream_gene_variant PBCA-DE 19 41095195 41095195 single base substitution C T intron_variant PBCA-DE 19 41095195 41095195 single base substitution C T upstream_gene_variant PBCA-DE 19 41097803 41097803 single base substitution C A downstream_gene_variant PRAD-CA 19 41084454 41084454 single base substitution C T downstream_gene_variant PRAD-CA 19 41084454 41084454 single base substitution C T intron_variant PRAD-CA 19 41084454 41084454 single base substitution C T splice_region_variant PRAD-CA 19 41084454 41084454 single base substitution C T upstream_gene_variant PRAD-CA 19 41091456 41091456 single base substitution T C downstream_gene_variant PRAD-CA 19 41091456 41091456 single base substitution T C intron_variant PRAD-CA 19 41091456 41091456 single base substitution T C upstream_gene_variant PRAD-UK 19 41079871 41079871 single base substitution G C upstream_gene_variant PRAD-UK 19 41088334 41088334 single base substitution C T downstream_gene_variant PRAD-UK 19 41088334 41088334 single base substitution C T exon_variant PRAD-UK 19 41088334 41088334 single base substitution C T missense_variant R283C 847C>T PRAD-UK 19 41088334 41088334 single base substitution C T missense_variant R302C 904C>T PRAD-UK 19 41088334 41088334 single base substitution C T missense_variant R308C 922C>T PRAD-UK 19 41088334 41088334 single base substitution C T upstream_gene_variant PRAD-UK 19 41096854 41096854 single base substitution C T downstream_gene_variant PRAD-UK 19 41096854 41096854 single base substitution C T intron_variant PRAD-UK 19 41099732 41099732 single base substitution C G downstream_gene_variant READ-US 19 41095087 41095112 deletion of <=200bp GAGGACAGTCCTGTCCAACAGGGAGG - downstream_gene_variant READ-US 19 41095087 41095112 deletion of <=200bp GAGGACAGTCCTGTCCAACAGGGAGG - intron_variant READ-US 19 41095087 41095112 deletion of <=200bp GAGGACAGTCCTGTCCAACAGGGAGG - splice_region_variant READ-US 19 41095087 41095112 deletion of <=200bp GAGGACAGTCCTGTCCAACAGGGAGG - upstream_gene_variant RECA-EU 19 41084716 41084716 single base substitution G C downstream_gene_variant RECA-EU 19 41084716 41084716 single base substitution G C intron_variant RECA-EU 19 41084716 41084716 single base substitution G C upstream_gene_variant RECA-EU 19 41088525 41088525 single base substitution A G downstream_gene_variant RECA-EU 19 41088525 41088525 single base substitution A G intron_variant RECA-EU 19 41088525 41088525 single base substitution A G upstream_gene_variant RECA-EU 19 41094283 41094283 single base substitution G A intron_variant RECA-EU 19 41094283 41094283 single base substitution G A upstream_gene_variant RECA-EU 19 41101787 41101787 single base substitution C T downstream_gene_variant SKCA-BR 19 41078414 41078414 single base substitution G A upstream_gene_variant SKCA-BR 19 41079850 41079850 single base substitution A T upstream_gene_variant SKCA-BR 19 41080328 41080328 single base substitution C T upstream_gene_variant SKCA-BR 19 41080352 41080352 single base substitution C T upstream_gene_variant SKCA-BR 19 41080511 41080511 single base substitution A C upstream_gene_variant SKCA-BR 19 41081909 41081909 single base substitution A G upstream_gene_variant SKCA-BR 19 41082721 41082721 single base substitution C T upstream_gene_variant SKCA-BR 19 41082770 41082770 single base substitution G A 5_prime_UTR_variant SKCA-BR 19 41082770 41082770 single base substitution G A upstream_gene_variant SKCA-BR 19 41084569 41084569 single base substitution C T downstream_gene_variant SKCA-BR 19 41084569 41084569 single base substitution C T intron_variant SKCA-BR 19 41084569 41084569 single base substitution C T upstream_gene_variant SKCA-BR 19 41085995 41085995 single base substitution T C downstream_gene_variant SKCA-BR 19 41085995 41085995 single base substitution T C intron_variant SKCA-BR 19 41085995 41085995 single base substitution T C upstream_gene_variant SKCA-BR 19 41086863 41086863 single base substitution C T downstream_gene_variant SKCA-BR 19 41086863 41086863 single base substitution C T intron_variant SKCA-BR 19 41086863 41086863 single base substitution C T upstream_gene_variant SKCA-BR 19 41087224 41087224 single base substitution T C downstream_gene_variant SKCA-BR 19 41087224 41087224 single base substitution T C intron_variant SKCA-BR 19 41087224 41087224 single base substitution T C upstream_gene_variant SKCA-BR 19 41088214 41088214 single base substitution C T downstream_gene_variant SKCA-BR 19 41088214 41088214 single base substitution C T intron_variant SKCA-BR 19 41088214 41088214 single base substitution C T upstream_gene_variant SKCA-BR 19 41089274 41089274 single base substitution C T downstream_gene_variant SKCA-BR 19 41089274 41089274 single base substitution C T intron_variant SKCA-BR 19 41089274 41089274 single base substitution C T upstream_gene_variant SKCA-BR 19 41091254 41091254 single base substitution C T downstream_gene_variant SKCA-BR 19 41091254 41091254 single base substitution C T intron_variant SKCA-BR 19 41091254 41091254 single base substitution C T upstream_gene_variant SKCA-BR 19 41092516 41092516 single base substitution A C downstream_gene_variant SKCA-BR 19 41092516 41092516 single base substitution A C intron_variant SKCA-BR 19 41092516 41092516 single base substitution A C upstream_gene_variant SKCA-BR 19 41095086 41095112 deletion of <=200bp TGAGGACAGTCCTGTCCAACAGGGAGG - downstream_gene_variant SKCA-BR 19 41095086 41095112 deletion of <=200bp TGAGGACAGTCCTGTCCAACAGGGAGG - intron_variant SKCA-BR 19 41095086 41095112 deletion of <=200bp TGAGGACAGTCCTGTCCAACAGGGAGG - splice_donor_variant SKCA-BR 19 41095086 41095112 deletion of <=200bp TGAGGACAGTCCTGTCCAACAGGGAGG - upstream_gene_variant SKCA-BR 19 41101811 41101820 deletion of <=200bp ATTTTTTTTT - downstream_gene_variant SKCM-US 19 41077962 41077962 single base substitution G A upstream_gene_variant SKCM-US 19 41078007 41078007 single base substitution A C upstream_gene_variant SKCM-US 19 41078018 41078018 single base substitution G A upstream_gene_variant SKCM-US 19 41083314 41083314 single base substitution A G 5_prime_UTR_variant SKCM-US 19 41083314 41083314 single base substitution A G exon_variant SKCM-US 19 41083314 41083314 single base substitution A G synonymous_variant G45G 135A>G SKCM-US 19 41083314 41083314 single base substitution A G synonymous_variant G51G 153A>G SKCM-US 19 41083314 41083314 single base substitution A G upstream_gene_variant SKCM-US 19 41083492 41083492 single base substitution C T exon_variant SKCM-US 19 41083492 41083492 single base substitution C T missense_variant S15L 44C>T SKCM-US 19 41083492 41083492 single base substitution C T synonymous_variant F66F 198C>T SKCM-US 19 41083492 41083492 single base substitution C T synonymous_variant F72F 216C>T SKCM-US 19 41083492 41083492 single base substitution C T upstream_gene_variant SKCM-US 19 41086272 41086272 single base substitution C T 3_prime_UTR_variant SKCM-US 19 41086272 41086272 single base substitution C T downstream_gene_variant SKCM-US 19 41086272 41086272 single base substitution C T exon_variant SKCM-US 19 41086272 41086272 single base substitution C T missense_variant P142L 425C>T SKCM-US 19 41086272 41086272 single base substitution C T missense_variant P148L 443C>T SKCM-US 19 41086272 41086272 single base substitution C T missense_variant P71L 212C>T SKCM-US 19 41086272 41086272 single base substitution C T upstream_gene_variant SKCM-US 19 41086326 41086326 single base substitution C T 3_prime_UTR_variant SKCM-US 19 41086326 41086326 single base substitution C T downstream_gene_variant SKCM-US 19 41086326 41086326 single base substitution C T exon_variant SKCM-US 19 41086326 41086326 single base substitution C T missense_variant P160L 479C>T SKCM-US 19 41086326 41086326 single base substitution C T missense_variant P166L 497C>T SKCM-US 19 41086326 41086326 single base substitution C T missense_variant P89L 266C>T SKCM-US 19 41086326 41086326 single base substitution C T upstream_gene_variant SKCM-US 19 41086712 41086712 single base substitution C T 3_prime_UTR_variant SKCM-US 19 41086712 41086712 single base substitution C T downstream_gene_variant SKCM-US 19 41086712 41086712 single base substitution C T exon_variant SKCM-US 19 41086712 41086712 single base substitution C T synonymous_variant I232I 696C>T SKCM-US 19 41086712 41086712 single base substitution C T synonymous_variant I238I 714C>T SKCM-US 19 41086712 41086712 single base substitution C T upstream_gene_variant SKCM-US 19 41088278 41088278 single base substitution C T downstream_gene_variant SKCM-US 19 41088278 41088278 single base substitution C T exon_variant SKCM-US 19 41088278 41088278 single base substitution C T intron_variant SKCM-US 19 41088278 41088278 single base substitution C T missense_variant P283L 848C>T SKCM-US 19 41088278 41088278 single base substitution C T missense_variant P289L 866C>T SKCM-US 19 41088278 41088278 single base substitution C T upstream_gene_variant SKCM-US 19 41089548 41089548 single base substitution C T downstream_gene_variant SKCM-US 19 41089548 41089548 single base substitution C T exon_variant SKCM-US 19 41089548 41089548 single base substitution C T missense_variant L12F 34C>T SKCM-US 19 41089548 41089548 single base substitution C T missense_variant L21F 61C>T SKCM-US 19 41089548 41089548 single base substitution C T missense_variant L339F 1015C>T SKCM-US 19 41089548 41089548 single base substitution C T missense_variant L358F 1072C>T SKCM-US 19 41089548 41089548 single base substitution C T missense_variant L364F 1090C>T SKCM-US 19 41089548 41089548 single base substitution C T upstream_gene_variant SKCM-US 19 41092699 41092699 single base substitution C T downstream_gene_variant SKCM-US 19 41092699 41092699 single base substitution C T exon_variant SKCM-US 19 41092699 41092699 single base substitution C T intron_variant SKCM-US 19 41092699 41092699 single base substitution C T synonymous_variant I29I 87C>T SKCM-US 19 41092699 41092699 single base substitution C T synonymous_variant I370I 1110C>T SKCM-US 19 41092699 41092699 single base substitution C T synonymous_variant I389I 1167C>T SKCM-US 19 41092699 41092699 single base substitution C T synonymous_variant I395I 1185C>T SKCM-US 19 41092699 41092699 single base substitution C T synonymous_variant I43I 129C>T SKCM-US 19 41092699 41092699 single base substitution C T synonymous_variant I6I 18C>T SKCM-US 19 41092699 41092699 single base substitution C T upstream_gene_variant SKCM-US 19 41092808 41092808 single base substitution C T downstream_gene_variant SKCM-US 19 41092808 41092808 single base substitution C T exon_variant SKCM-US 19 41092808 41092808 single base substitution C T intron_variant SKCM-US 19 41092808 41092808 single base substitution C T missense_variant P3S 7C>T SKCM-US 19 41092808 41092808 single base substitution C T missense_variant P407S 1219C>T SKCM-US 19 41092808 41092808 single base substitution C T missense_variant P426S 1276C>T SKCM-US 19 41092808 41092808 single base substitution C T missense_variant P432S 1294C>T SKCM-US 19 41092808 41092808 single base substitution C T missense_variant P43S 127C>T SKCM-US 19 41092808 41092808 single base substitution C T missense_variant P66S 196C>T SKCM-US 19 41092808 41092808 single base substitution C T missense_variant P80S 238C>T SKCM-US 19 41092808 41092808 single base substitution C T upstream_gene_variant SKCM-US 19 41095040 41095040 single base substitution C T downstream_gene_variant SKCM-US 19 41095040 41095040 single base substitution C T exon_variant SKCM-US 19 41095040 41095040 single base substitution C T intron_variant SKCM-US 19 41095040 41095040 single base substitution C T missense_variant P11L 32C>T SKCM-US 19 41095040 41095040 single base substitution C T missense_variant P31L 92C>T SKCM-US 19 41095040 41095040 single base substitution C T synonymous_variant P115P 345C>T SKCM-US 19 41095040 41095040 single base substitution C T synonymous_variant P490P 1470C>T SKCM-US 19 41095040 41095040 single base substitution C T synonymous_variant P515P 1545C>T SKCM-US 19 41095040 41095040 single base substitution C T synonymous_variant P86P 258C>T SKCM-US 19 41095040 41095040 single base substitution C T upstream_gene_variant SKCM-US 19 41096183 41096183 single base substitution C T downstream_gene_variant SKCM-US 19 41096183 41096183 single base substitution C T exon_variant SKCM-US 19 41096183 41096183 single base substitution C T intron_variant SKCM-US 19 41096183 41096183 single base substitution C T synonymous_variant P112P 336C>T SKCM-US 19 41096183 41096183 single base substitution C T synonymous_variant P141P 423C>T SKCM-US 19 41096183 41096183 single base substitution C T synonymous_variant P516P 1548C>T SKCM-US 19 41096183 41096183 single base substitution C T synonymous_variant P541P 1623C>T SKCM-US 19 41096235 41096235 single base substitution C T downstream_gene_variant SKCM-US 19 41096235 41096235 single base substitution C T exon_variant SKCM-US 19 41096235 41096235 single base substitution C T intron_variant SKCM-US 19 41096235 41096235 single base substitution C T missense_variant R130W 388C>T SKCM-US 19 41096235 41096235 single base substitution C T missense_variant R159W 475C>T SKCM-US 19 41096235 41096235 single base substitution C T missense_variant R534W 1600C>T SKCM-US 19 41096235 41096235 single base substitution C T missense_variant R559W 1675C>T SKCM-US 19 41096315 41096315 single base substitution C T downstream_gene_variant SKCM-US 19 41096315 41096315 single base substitution C T exon_variant SKCM-US 19 41096315 41096315 single base substitution C T intron_variant SKCM-US 19 41096315 41096315 single base substitution C T synonymous_variant L156L 468C>T SKCM-US 19 41096315 41096315 single base substitution C T synonymous_variant L185L 555C>T SKCM-US 19 41096315 41096315 single base substitution C T synonymous_variant L560L 1680C>T SKCM-US 19 41096315 41096315 single base substitution C T synonymous_variant L585L 1755C>T SKCM-US 19 41099087 41099087 single base substitution G A downstream_gene_variant STAD-US 19 41077980 41077980 single base substitution G T upstream_gene_variant STAD-US 19 41077990 41077990 single base substitution G T upstream_gene_variant STAD-US 19 41078036 41078036 single base substitution G A upstream_gene_variant STAD-US 19 41083179 41083181 deletion of <=200bp CTT - 5_prime_UTR_variant STAD-US 19 41083179 41083181 deletion of <=200bp CTT - exon_variant STAD-US 19 41083179 41083181 deletion of <=200bp CTT - inframe_deletion SF37S STAD-US 19 41083179 41083181 deletion of <=200bp CTT - inframe_deletion SF43S STAD-US 19 41083179 41083181 deletion of <=200bp CTT - upstream_gene_variant STAD-US 19 41086254 41086254 single base substitution G A 3_prime_UTR_variant STAD-US 19 41086254 41086254 single base substitution G A downstream_gene_variant STAD-US 19 41086254 41086254 single base substitution G A exon_variant STAD-US 19 41086254 41086254 single base substitution G A missense_variant R136Q 407G>A STAD-US 19 41086254 41086254 single base substitution G A missense_variant R142Q 425G>A STAD-US 19 41086254 41086254 single base substitution G A missense_variant R65Q 194G>A STAD-US 19 41086254 41086254 single base substitution G A upstream_gene_variant STAD-US 19 41086783 41086783 single base substitution C T downstream_gene_variant STAD-US 19 41086783 41086783 single base substitution C T exon_variant STAD-US 19 41086783 41086783 single base substitution C T missense_variant A256V 767C>T STAD-US 19 41086783 41086783 single base substitution C T missense_variant A262V 785C>T STAD-US 19 41086783 41086783 single base substitution C T upstream_gene_variant STAD-US 19 41086826 41086826 single base substitution C T downstream_gene_variant STAD-US 19 41086826 41086826 single base substitution C T exon_variant STAD-US 19 41086826 41086826 single base substitution C T synonymous_variant G270G 810C>T STAD-US 19 41086826 41086826 single base substitution C T synonymous_variant G276G 828C>T STAD-US 19 41086826 41086826 single base substitution C T upstream_gene_variant STAD-US 19 41089337 41089337 single base substitution G A downstream_gene_variant STAD-US 19 41089337 41089337 single base substitution G A exon_variant STAD-US 19 41089337 41089337 single base substitution G A missense_variant A307T 919G>A STAD-US 19 41089337 41089337 single base substitution G A missense_variant A326T 976G>A STAD-US 19 41089337 41089337 single base substitution G A missense_variant A332T 994G>A STAD-US 19 41089337 41089337 single base substitution G A upstream_gene_variant STAD-US 19 41089528 41089528 single base substitution G A downstream_gene_variant STAD-US 19 41089528 41089528 single base substitution G A exon_variant STAD-US 19 41089528 41089528 single base substitution G A missense_variant R14H 41G>A STAD-US 19 41089528 41089528 single base substitution G A missense_variant R332H 995G>A STAD-US 19 41089528 41089528 single base substitution G A missense_variant R351H 1052G>A STAD-US 19 41089528 41089528 single base substitution G A missense_variant R357H 1070G>A STAD-US 19 41089528 41089528 single base substitution G A missense_variant R5H 14G>A STAD-US 19 41089528 41089528 single base substitution G A upstream_gene_variant STAD-US 19 41094670 41094670 single base substitution G A exon_variant STAD-US 19 41094670 41094670 single base substitution G A intron_variant STAD-US 19 41094670 41094670 single base substitution G A missense_variant A127T 379G>A STAD-US 19 41094670 41094670 single base substitution G A missense_variant A141T 421G>A STAD-US 19 41094670 41094670 single base substitution G A missense_variant A468T 1402G>A STAD-US 19 41094670 41094670 single base substitution G A missense_variant A487T 1459G>A STAD-US 19 41094670 41094670 single base substitution G A missense_variant A493T 1477G>A STAD-US 19 41094670 41094670 single base substitution G A missense_variant A64T 190G>A STAD-US 19 41094670 41094670 single base substitution G A missense_variant A93T 277G>A STAD-US 19 41094670 41094670 single base substitution G A synonymous_variant V8V 24G>A STAD-US 19 41094670 41094670 single base substitution G A upstream_gene_variant UCEC-US 19 41078001 41078001 single base substitution G A upstream_gene_variant UCEC-US 19 41081449 41081449 single base substitution C T upstream_gene_variant UCEC-US 19 41083341 41083341 single base substitution C T exon_variant UCEC-US 19 41083341 41083341 single base substitution C T missense_variant P3L 8C>T UCEC-US 19 41083341 41083341 single base substitution C T synonymous_variant T54T 162C>T UCEC-US 19 41083341 41083341 single base substitution C T synonymous_variant T60T 180C>T UCEC-US 19 41083341 41083341 single base substitution C T upstream_gene_variant UCEC-US 19 41083514 41083514 single base substitution C T exon_variant UCEC-US 19 41083514 41083514 single base substitution C T missense_variant R74C 220C>T UCEC-US 19 41083514 41083514 single base substitution C T missense_variant R80C 238C>T UCEC-US 19 41083514 41083514 single base substitution C T synonymous_variant C22C 66C>T UCEC-US 19 41083514 41083514 single base substitution C T upstream_gene_variant UCEC-US 19 41084113 41084113 single base substitution C A 3_prime_UTR_variant UCEC-US 19 41084113 41084113 single base substitution C A downstream_gene_variant UCEC-US 19 41084113 41084113 single base substitution C A exon_variant UCEC-US 19 41084113 41084113 single base substitution C A intron_variant UCEC-US 19 41084113 41084113 single base substitution C A missense_variant P105H 314C>A UCEC-US 19 41084113 41084113 single base substitution C A missense_variant P99H 296C>A UCEC-US 19 41084113 41084113 single base substitution C A upstream_gene_variant UCEC-US 19 41086500 41086500 single base substitution C T 3_prime_UTR_variant UCEC-US 19 41086500 41086500 single base substitution C T downstream_gene_variant UCEC-US 19 41086500 41086500 single base substitution C T exon_variant UCEC-US 19 41086500 41086500 single base substitution C T synonymous_variant R120R 360C>T UCEC-US 19 41086500 41086500 single base substitution C T synonymous_variant R191R 573C>T UCEC-US 19 41086500 41086500 single base substitution C T synonymous_variant R197R 591C>T UCEC-US 19 41086500 41086500 single base substitution C T upstream_gene_variant UCEC-US 19 41089388 41089388 single base substitution G A downstream_gene_variant UCEC-US 19 41089388 41089388 single base substitution G A exon_variant UCEC-US 19 41089388 41089388 single base substitution G A missense_variant V324M 970G>A UCEC-US 19 41089388 41089388 single base substitution G A missense_variant V343M 1027G>A UCEC-US 19 41089388 41089388 single base substitution G A missense_variant V349M 1045G>A UCEC-US 19 41089388 41089388 single base substitution G A missense_variant V6M 16G>A UCEC-US 19 41089388 41089388 single base substitution G A upstream_gene_variant UCEC-US 19 41089541 41089541 single base substitution C T downstream_gene_variant UCEC-US 19 41089541 41089541 single base substitution C T exon_variant UCEC-US 19 41089541 41089541 single base substitution C T synonymous_variant N18N 54C>T UCEC-US 19 41089541 41089541 single base substitution C T synonymous_variant N336N 1008C>T UCEC-US 19 41089541 41089541 single base substitution C T synonymous_variant N355N 1065C>T UCEC-US 19 41089541 41089541 single base substitution C T synonymous_variant N361N 1083C>T UCEC-US 19 41089541 41089541 single base substitution C T synonymous_variant N9N 27C>T UCEC-US 19 41089541 41089541 single base substitution C T upstream_gene_variant UCEC-US 19 41089542 41089542 single base substitution G A downstream_gene_variant UCEC-US 19 41089542 41089542 single base substitution G A exon_variant UCEC-US 19 41089542 41089542 single base substitution G A missense_variant D10N 28G>A UCEC-US 19 41089542 41089542 single base substitution G A missense_variant D19N 55G>A UCEC-US 19 41089542 41089542 single base substitution G A missense_variant D337N 1009G>A UCEC-US 19 41089542 41089542 single base substitution G A missense_variant D356N 1066G>A UCEC-US 19 41089542 41089542 single base substitution G A missense_variant D362N 1084G>A UCEC-US 19 41089542 41089542 single base substitution G A upstream_gene_variant UCEC-US 19 41092786 41092786 single base substitution G C downstream_gene_variant UCEC-US 19 41092786 41092786 single base substitution G C exon_variant UCEC-US 19 41092786 41092786 single base substitution G C intron_variant UCEC-US 19 41092786 41092786 single base substitution G C missense_variant Q35H 105G>C UCEC-US 19 41092786 41092786 single base substitution G C missense_variant Q399H 1197G>C UCEC-US 19 41092786 41092786 single base substitution G C missense_variant Q418H 1254G>C UCEC-US 19 41092786 41092786 single base substitution G C missense_variant Q424H 1272G>C UCEC-US 19 41092786 41092786 single base substitution G C missense_variant Q58H 174G>C UCEC-US 19 41092786 41092786 single base substitution G C missense_variant Q72H 216G>C UCEC-US 19 41092786 41092786 single base substitution G C upstream_gene_variant UCEC-US 19 41092803 41092803 single base substitution G A downstream_gene_variant UCEC-US 19 41092803 41092803 single base substitution G A exon_variant UCEC-US 19 41092803 41092803 single base substitution G A intron_variant UCEC-US 19 41092803 41092803 single base substitution G A missense_variant R1H 2G>A UCEC-US 19 41092803 41092803 single base substitution G A missense_variant R405H 1214G>A UCEC-US 19 41092803 41092803 single base substitution G A missense_variant R41H 122G>A UCEC-US 19 41092803 41092803 single base substitution G A missense_variant R424H 1271G>A UCEC-US 19 41092803 41092803 single base substitution G A missense_variant R430H 1289G>A UCEC-US 19 41092803 41092803 single base substitution G A missense_variant R64H 191G>A UCEC-US 19 41092803 41092803 single base substitution G A missense_variant R78H 233G>A UCEC-US 19 41092803 41092803 single base substitution G A upstream_gene_variant UCEC-US 19 41096245 41096245 single base substitution G A downstream_gene_variant UCEC-US 19 41096245 41096245 single base substitution G A exon_variant UCEC-US 19 41096245 41096245 single base substitution G A intron_variant UCEC-US 19 41096245 41096245 single base substitution G A missense_variant R133H 398G>A UCEC-US 19 41096245 41096245 single base substitution G A missense_variant R162H 485G>A UCEC-US 19 41096245 41096245 single base substitution G A missense_variant R537H 1610G>A UCEC-US 19 41096245 41096245 single base substitution G A missense_variant R562H 1685G>A

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand 8053106 COSM4389621 c.1776C>T p.G592G Substitution - coding silent 19:40590737-40590737 + HCC38T COSM1612272 c.1454C>G p.A485G Substitution - Missense 19:40588741-40588741 + BD141T COSM5516973 c.8C>T p.A3V Substitution - Missense 19:40576907-40576907 + LS174T COSM3225848 c.181G>A p.G61R Substitution - Missense 19:40577436-40577436 + TCGA-A6-6781-01 COSM1393846 c.1869_1870insA p.S624fs*31 Insertion - Frameshift 19:40590830-40590831 + B86 COSM1750906 c.554C>A p.S185* Substitution - Nonsense 19:40580477-40580477 + T3436 COSM3225899 c.1967G>A p.R656Q Substitution - Missense 19:40591050-40591050 + TCGA-EE-A2MF-06 COSM4892692 c.1090C>T p.L364F Substitution - Missense 19:40583642-40583642 + PT33 COSM5909777 c.694C>T p.P232S Substitution - Missense 19:40580786-40580786 + TCGA-DK-A1AC-01 COSM1304608 c.853C>T p.H285Y Substitution - Missense 19:40582359-40582359 + TCGA-RC-A7SF-01 COSM4923175 c.1600G>T p.V534L Substitution - Missense 19:40590254-40590254 + PDA_026 COSM3719060 c.1589+3_1589+28del26 p.? Unknown 19:40589181-40589206 + TCGA-B5-A0JY-01 COSM996742 c.238C>T p.R80C Substitution - Missense 19:40577608-40577608 + TCGA-A2-A0T5-01 COSM3823133 c.1414A>C p.T472P Substitution - Missense 19:40588701-40588701 + YUKAT COSM5389798 c.710C>T p.P237L Substitution - Missense 19:40580802-40580802 + TCGA-76-6282-01 COSM3404243 c.1913A>G p.N638S Substitution - Missense 19:40590996-40590996 + PCSI_0175_Pa_P_526 COSM4962267 c.318G>T p.L106L Substitution - coding silent 19:40578211-40578211 + SNU-175 COSM3225851 c.393G>A p.P131P Substitution - coding silent 19:40578535-40578535 + CHEWS013 COSM4581056 c.306G>T p.G102G Substitution - coding silent 19:40578199-40578199 + J1_T COSM3960084 c.1253C>A p.S418* Substitution - Nonsense 19:40586861-40586861 + AOCS-093-3-6 COSM4140657 c.440G>C p.G147A Substitution - Missense 19:40580363-40580363 + TCGA-EI-6507-01 COSM3719060 c.1589+3_1589+28del26 p.? Unknown 19:40589181-40589206 + EOPC-02_tumor COSM3225853 c.424C>T p.R142W Substitution - Missense 19:40580347-40580347 + 587332 COSM1225659 c.391C>T p.P131S Substitution - Missense 19:40578533-40578533 + HCC084T COSM5822311 c.562+4C>T p.? Unknown 19:40580489-40580489 + TCGA-B5-A11R-01 COSM996748 c.1272G>C p.Q424H Substitution - Missense 19:40586880-40586880 + TCGA-FP-A4BE-01 COSM4078300 c.1070G>A p.R357H Substitution - Missense 19:40583622-40583622 + LN18 COSM3225881 c.1379G>T p.R460L Substitution - Missense 19:40588666-40588666 + TCGA-FU-A5XV-01 COSM459957 c.192C>T p.F64F Substitution - coding silent 19:40577562-40577562 + BN24 COSM1612273 c.1741G>A p.A581T Substitution - Missense 19:40590395-40590395 + T2269 COSM4725875 c.244A>C p.K82Q Substitution - Missense 19:40577614-40577614 + TCGA-EE-A2GJ-06 COSM3534144 c.1545C>T p.P515P Substitution - coding silent 19:40589134-40589134 + CSCC-35-T COSM4475986 c.2031C>T p.L677L Substitution - coding silent 19:40591114-40591114 + PD9605a COSM84528 c.1468G>A p.G490S Substitution - Missense 19:40588755-40588755 + T578 COSM4725876 c.327C>T p.R109R Substitution - coding silent 19:40578469-40578469 + TCGA-46-3769-01 COSM712857 c.141-1G>T p.? Unknown 19:40577395-40577395 + SM-4B295 COSM3225873 c.1215C>T p.G405G Substitution - coding silent 19:40586823-40586823 + 3N64-VS-3T64 COSM4984696 c.623T>C p.V208A Substitution - Missense 19:40580626-40580626 + TCGA-D5-6537-01 COSM1393847 c.1882T>A p.S628T Substitution - Missense 19:40590843-40590843 + AOCS-004-1-5 COSM4140658 c.1826C>T p.P609L Substitution - Missense 19:40590787-40590787 + PD10059a COSM3719060 c.1589+3_1589+28del26 p.? Unknown 19:40589181-40589206 + TCGA-DU-7012-01 COSM3971002 c.1768G>A p.A590T Substitution - Missense 19:40590422-40590422 + TCGA-D5-6928-01 COSM1393839 c.488C>T p.T163M Substitution - Missense 19:40580411-40580411 + PT35 COSM5914193 c.105G>C p.Q35H Substitution - Missense 19:40577249-40577249 + TCGA-06-6699-01 COSM3404242 c.120C>A p.I40I Substitution - coding silent 19:40577264-40577264 + A4 COSM3719060 c.1589+3_1589+28del26 p.? Unknown 19:40589181-40589206 + Pat_05_B COSM5855811 c.1394T>C p.I465T Substitution - Missense 19:40588681-40588681 + TCGA-31-1959-01 COSM118321 c.1500C>T p.Y500Y Substitution - coding silent 19:40589089-40589089 + 786-0 COSM1681041 c.1085A>G p.D362G Substitution - Missense 19:40583637-40583637 + S01297 COSM5667539 c.515G>T p.G172V Substitution - Missense 19:40580438-40580438 + TCGA-D8-A1XK-01 COSM3225889 c.1588C>T p.R530W Substitution - Missense 19:40589177-40589177 + Pa02C COSM84528 c.1468G>A p.G490S Substitution - Missense 19:40588755-40588755 + TCGA-D1-A103-01 COSM996750 c.1685G>A p.R562H Substitution - Missense 19:40590339-40590339 + TCGA-FW-A3R5-06 COSM3892602 c.216C>T p.F72F Substitution - coding silent 19:40577586-40577586 + cSCCP4 COSM139141 c.1253C>T p.S418L Substitution - Missense 19:40586861-40586861 + B61 COSM439545 c.1629A>G p.T543T Substitution - coding silent 19:40590283-40590283 + ESO-0129 COSM1265536 c.1940G>T p.S647I Substitution - Missense 19:40591023-40591023 + TCGA-AA-3662-01 COSM3719060 c.1589+3_1589+28del26 p.? Unknown 19:40589181-40589206 + TCGA-BR-4362-01 COSM4078296 c.425G>A p.R142Q Substitution - Missense 19:40580348-40580348 + TCGA-DS-A0VM-01 COSM459957 c.192C>T p.F64F Substitution - coding silent 19:40577562-40577562 + TCGA-CG-5728-01 COSM4078298 c.828C>T p.G276G Substitution - coding silent 19:40580920-40580920 + S00943 COSM315156 c.2016G>T p.R672R Substitution - coding silent 19:40591099-40591099 + YUKAT COSM5389802 c.1818G>A p.E606E Substitution - coding silent 19:40590779-40590779 + HCT-116 COSM1681045 c.1594T>C p.C532R Substitution - Missense 19:40590248-40590248 + LS180 COSM3225848 c.181G>A p.G61R Substitution - Missense 19:40577436-40577436 + TCGA-AA-3833-01 COSM271524 c.919G>T p.G307W Substitution - Missense 19:40582425-40582425 + HCC101T COSM5813348 c.1172G>T p.S391I Substitution - Missense 19:40586780-40586780 + SWE-27 COSM1179257 c.1119G>A p.A373A Substitution - coding silent 19:40583671-40583671 + TCGA-AD-6963-01 COSM3719060 c.1589+3_1589+28del26 p.? Unknown 19:40589181-40589206 + C086 COSM5538911 c.325C>T p.R109C Substitution - Missense 19:40578467-40578467 + Pat_34_A COSM5855812 c.1427C>T p.S476F Substitution - Missense 19:40588714-40588714 + TCGA-DC-4749-01 COSM3719060 c.1589+3_1589+28del26 p.? Unknown 19:40589181-40589206 + TCGA-BR-4361-01 COSM4078297 c.785C>T p.A262V Substitution - Missense 19:40580877-40580877 + CCRF-CEM COSM1681043 c.1228G>A p.V410M Substitution - Missense 19:40586836-40586836 + TCGA-D1-A167-01 COSM996746 c.1083C>T p.N361N Substitution - coding silent 19:40583635-40583635 + TCGA-AA-3492-01 COSM1393840 c.795C>T p.S265S Substitution - coding silent 19:40580887-40580887 + CSCC-31-T COSM4468578 c.1550C>T p.A517V Substitution - Missense 19:40589139-40589139 + TCGA-D1-A167-01 COSM996745 c.1045G>A p.V349M Substitution - Missense 19:40583482-40583482 + CSCC-35-T COSM3534143 c.1185C>T p.I395I Substitution - coding silent 19:40586793-40586793 + TCGA-A6-4105-01 COSM1393841 c.1029C>T p.N343N Substitution - coding silent 19:40583466-40583466 + TCGA-AP-A0LM-01 COSM996741 c.180C>T p.T60T Substitution - coding silent 19:40577435-40577435 + SC_9027 COSM233354 c.976C>T p.P326S Substitution - Missense 19:40583413-40583413 + CN-AML-CR-34-Dx COSM5425133 c.1407C>T p.P469P Substitution - coding silent 19:40588694-40588694 + TCGA-D3-A1QA-06 COSM3534141 c.153A>G p.G51G Substitution - coding silent 19:40577408-40577408 + TCGA-EE-A2MS-06 COSM3225864 c.714C>T p.I238I Substitution - coding silent 19:40580806-40580806 + TCGA-BP-4963-01 COSM474759 c.1467C>T p.G489G Substitution - coding silent 19:40588754-40588754 + YURTHE COSM1712312 c.122C>T p.P41L Substitution - Missense 19:40577266-40577266 + SC_9099 COSM5549350 c.822G>A p.A274A Substitution - coding silent 19:40580914-40580914 + TCGA-HT-8018-01 COSM84528 c.1468G>A p.G490S Substitution - Missense 19:40588755-40588755 + TCGA-ER-A19W-06 COSM4398999 c.1294C>T p.P432S Substitution - Missense 19:40586902-40586902 + 2290930 COSM4440581 c.1542G>T p.V514V Substitution - coding silent 19:40589131-40589131 + SNUH_G37_S1 COSM3680927 c.274T>C p.S92P Substitution - Missense 19:40578167-40578167 + TCGA-CF-A1HS-01 COSM418240 c.1343C>T p.A448V Substitution - Missense 19:40588630-40588630 + Mel-2 COSM3225861 c.590G>A p.R197H Substitution - Missense 19:40580593-40580593 + TCGA-UC-A7PF-01 COSM4829972 c.1437C>G p.I479M Substitution - Missense 19:40588724-40588724 + TCGA-BH-A18G-01 COSM3823132 c.270C>T p.H90H Substitution - coding silent 19:40578163-40578163 + ACINAR01 COSM1734614 c.1916_1918delCCT p.S640delS Deletion - In frame 19:40590999-40591001 + CRC-19T COSM3225866 c.789C>T p.T263T Substitution - coding silent 19:40580881-40580881 + TCGA-EE-A29C-06 COSM1393844 c.1623C>T p.P541P Substitution - coding silent 19:40590277-40590277 + TCGA-BT-A2LB-01 COSM3797103 c.1743C>T p.A581A Substitution - coding silent 19:40590397-40590397 + P150 COSM1737368 c.1996C>T p.R666C Substitution - Missense 19:40591079-40591079 + Gp5D COSM4611772 c.303_304insG p.L103fs*78 Insertion - Frameshift 19:40578196-40578197 + I2L-P19Tb-Tumor-Organoid COSM233354 c.976C>T p.P326S Substitution - Missense 19:40583413-40583413 + GHE1438 COSM3719060 c.1589+3_1589+28del26 p.? Unknown 19:40589181-40589206 + TCGA-EE-A2GS-06 COSM3534142 c.497C>T p.P166L Substitution - Missense 19:40580420-40580420 + SM-4B295 COSM4413288 c.737G>A p.R246Q Substitution - Missense 19:40580829-40580829 + TCGA-AU-6004-01 COSM3719060 c.1589+3_1589+28del26 p.? Unknown 19:40589181-40589206 + ESO-717 COSM1242836 c.1904C>T p.A635V Substitution - Missense 19:40590987-40590987 + TCGA-B5-A11E-01 COSM996749 c.1289G>A p.R430H Substitution - Missense 19:40586897-40586897 + TCGA-EE-A2GJ-06 COSM3534145 c.1675C>T p.R559W Substitution - Missense 19:40590329-40590329 + TCGA-CM-5862-01 COSM3719060 c.1589+3_1589+28del26 p.? Unknown 19:40589181-40589206 + PT40 COSM5924127 c.141-7C>T p.? Unknown 19:40577389-40577389 + HCT116 COSM3225894 c.1782G>A p.T594T Substitution - coding silent 19:40590743-40590743 + TCGA-CM-6161-01 COSM3719060 c.1589+3_1589+28del26 p.? Unknown 19:40589181-40589206 + TCGA-D9-A3Z1-06 COSM3534143 c.1185C>T p.I395I Substitution - coding silent 19:40586793-40586793 + 2492720 COSM5724338 c.801C>T p.I267I Substitution - coding silent 19:40580893-40580893 + YUKAT COSM5389799 c.846G>A p.G282G Substitution - coding silent 19:40582352-40582352 + TCGA-BP-5195-01 COSM474756 c.100C>A p.R34S Substitution - Missense 19:40577244-40577244 + TCGA-AX-A0J0-01 COSM996743 c.314C>A p.P105H Substitution - Missense 19:40578207-40578207 + BN24T COSM1612273 c.1741G>A p.A581T Substitution - Missense 19:40590395-40590395 + Pat_28_B COSM5855810 c.986G>A p.S329N Substitution - Missense 19:40583423-40583423 + TCGA-G4-6297-01 COSM3719060 c.1589+3_1589+28del26 p.? Unknown 19:40589181-40589206 + I2L-P19Tb-Tumor-Biopsy COSM233354 c.976C>T p.P326S Substitution - Missense 19:40583413-40583413 + ASHPC_0025_Pa_P COSM4808106 c.930G>T p.G310G Substitution - coding silent 19:40582436-40582436 + Pat_46_B COSM5855808 c.689C>T p.S230F Substitution - Missense 19:40580781-40580781 + cSCCP4 COSM139142 c.1673C>T p.S558F Substitution - Missense 19:40590327-40590327 + YUKAT COSM5389800 c.961G>A p.V321I Substitution - Missense 19:40583398-40583398 + TCGA-A5-A0GB-01 COSM996744 c.591C>T p.R197R Substitution - coding silent 19:40580594-40580594 + TCGA-A6-5659-01 COSM3719060 c.1589+3_1589+28del26 p.? Unknown 19:40589181-40589206 + HCC074T COSM5810276 c.909A>T p.T303T Substitution - coding silent 19:40582415-40582415 + PD4939a COSM164319 c.633C>G p.T211T Substitution - coding silent 19:40580636-40580636 + B86-Tumor COSM1750906 c.554C>A p.S185* Substitution - Nonsense 19:40580477-40580477 + TCGA-BC-A110-01 COSM1179257 c.1119G>A p.A373A Substitution - coding silent 19:40583671-40583671 + CPCG0098-F1 COSM4880227 c.400+6C>T p.? Unknown 19:40578548-40578548 + Pat_46_A COSM5855808 c.689C>T p.S230F Substitution - Missense 19:40580781-40580781 + T47D COSM1681044 c.1409G>C p.G470A Substitution - Missense 19:40588696-40588696 + CSCC-27-T COSM4509395 c.805C>T p.L269L Substitution - coding silent 19:40580897-40580897 + T1 COSM5618607 c.161C>A p.S54* Substitution - Nonsense 19:40577416-40577416 + ODG11 COSM5731477 c.821C>T p.A274V Substitution - Missense 19:40580913-40580913 + STC232 COSM5056667 c.1876C>A p.R626S Substitution - Missense 19:40590837-40590837 + YUHAMA COSM5389803 c.1919C>T p.S640F Substitution - Missense 19:40591002-40591002 + T55 COSM4725878 c.1056G>A p.Q352Q Substitution - coding silent 19:40583608-40583608 + MO_1012 COSM5546740 c.2051delC p.P685fs*16 Deletion - Frameshift 19:40591134-40591134 + YUSEL COSM1712313 c.1114C>T p.P372S Substitution - Missense 19:40583666-40583666 + TCGA-10-0930-01 COSM76417 c.1031G>C p.G344A Substitution - Missense 19:40583468-40583468 + PT33 COSM5909776 c.502C>T p.L168F Substitution - Missense 19:40580425-40580425 + 587332 COSM1225660 c.1513G>A p.D505N Substitution - Missense 19:40589102-40589102 + CHC469T COSM3668277 c.1257G>A p.G419G Substitution - coding silent 19:40586865-40586865 + KM12 COSM1681042 c.1219C>T p.R407W Substitution - Missense 19:40586827-40586827 + TCGA-BP-4983-01 COSM474757 c.1256G>T p.G419V Substitution - Missense 19:40586864-40586864 + CSCC-40-T COSM4451023 c.1024A>T p.N342Y Substitution - Missense 19:40583461-40583461 + ESO-085 COSM1265538 c.131T>C p.F44S Substitution - Missense 19:40577275-40577275 + TCGA-A6-6781-01 COSM1393843 c.1568G>A p.R523H Substitution - Missense 19:40589157-40589157 + T3091 COSM4725877 c.676C>T p.Q226* Substitution - Nonsense 19:40580768-40580768 + 2492722 COSM5724338 c.801C>T p.I267I Substitution - coding silent 19:40580893-40580893 + TCGA-GC-A3RC-01 COSM3797102 c.652A>G p.R218G Substitution - Missense 19:40580655-40580655 + LUAD_E00945 COSM389911 c.271G>T p.G91C Substitution - Missense 19:40578164-40578164 + STC246 COSM5056665 c.1491T>G p.I497M Substitution - Missense 19:40588778-40588778 + HCC118T COSM5813746 c.576G>T p.E192D Substitution - Missense 19:40580579-40580579 + Gp2D COSM4611772 c.303_304insG p.L103fs*78 Insertion - Frameshift 19:40578196-40578197 + TCGA-E2-A15I-01 COSM439544 c.1242G>T p.E414D Substitution - Missense 19:40586850-40586850 + TCGA-AD-6895-01 COSM1393844 c.1623C>T p.P541P Substitution - coding silent 19:40590277-40590277 + SNU-175 COSM3225869 c.941C>T p.A314V Substitution - Missense 19:40582447-40582447 + TCGA-34-5239-01 COSM712855 c.790G>A p.G264S Substitution - Missense 19:40580882-40580882 + PT42 COSM5926059 c.1949C>T p.P650L Substitution - Missense 19:40591032-40591032 + CSCC-31-T COSM4516557 c.2038_2039CC>TT p.P680L Substitution - Missense 19:40591121-40591122 + SWE-54A COSM439545 c.1629A>G p.T543T Substitution - coding silent 19:40590283-40590283 + TCGA-AP-A0LM-01 COSM996747 c.1084G>A p.D362N Substitution - Missense 19:40583636-40583636 + TCGA-CG-4306-01 COSM4078301 c.1477G>A p.A493T Substitution - Missense 19:40588764-40588764 + C086 COSM5538912 c.2118C>T p.S706S Substitution - coding silent 19:40591201-40591201 + CSCC-47-T COSM4473817 c.1875C>T p.P625P Substitution - coding silent 19:40590836-40590836 + 2492721 COSM5724338 c.801C>T p.I267I Substitution - coding silent 19:40580893-40580893 + CSCC-31-T COSM4557771 c.73G>T p.V25L Substitution - Missense 19:40576972-40576972 + WSU-HN6 COSM4602444 c.1423G>A p.A475T Substitution - Missense 19:40588710-40588710 + YUPAT COSM1712314 c.1495_1496CC>TT p.P499F Substitution - Missense 19:40589084-40589085 + TCGA-BC-A10U-01 COSM4942485 c.980T>A p.I327N Substitution - Missense 19:40583417-40583417 + TCGA-CM-6166-01 COSM3719060 c.1589+3_1589+28del26 p.? Unknown 19:40589181-40589206 + TCGA-AA-3854-01 COSM295768 c.1829C>T p.P610L Substitution - Missense 19:40590790-40590790 + LOVO COSM3225905 c.2074G>T p.G692C Substitution - Missense 19:40591157-40591157 + 2492723 COSM5724338 c.801C>T p.I267I Substitution - coding silent 19:40580893-40580893 + TCGA-GN-A263-01 COSM3892604 c.866C>T p.P289L Substitution - Missense 19:40582372-40582372 + CHC469T COSM3668277 c.1257G>A p.G419G Substitution - coding silent 19:40586865-40586865 + YUKAT COSM3225900 c.1971C>T p.R657R Substitution - coding silent 19:40591054-40591054 + TCGA-EI-6514-01 COSM3719060 c.1589+3_1589+28del26 p.? Unknown 19:40589181-40589206 + PDA_067 COSM3719060 c.1589+3_1589+28del26 p.? Unknown 19:40589181-40589206 + TCGA-21-1070-01 COSM712854 c.2094C>T p.P698P Substitution - coding silent 19:40591177-40591177 + SNUH_G37_S1 COSM3680928 c.288T>G p.H96Q Substitution - Missense 19:40578181-40578181 + TCGA-AA-A010-01 COSM284972 c.2014C>T p.R672W Substitution - Missense 19:40591097-40591097 + STC291 COSM1681042 c.1219C>T p.R407W Substitution - Missense 19:40586827-40586827 + 8057479 COSM3389033 c.1040A>G p.Y347C Substitution - Missense 19:40583477-40583477 + TCGA-D3-A3MR-06 COSM3534146 c.1755C>T p.L585L Substitution - coding silent 19:40590409-40590409 + Pat_59_B COSM5855809 c.862G>A p.V288M Substitution - Missense 19:40582368-40582368 + YUSIPU COSM5389801 c.1063C>T p.P355S Substitution - Missense 19:40583615-40583615 + TCGA-B0-5698-01 COSM474758 c.1408G>A p.G470S Substitution - Missense 19:40588695-40588695 + TCGA-BR-4361-01 COSM4078299 c.994G>A p.A332T Substitution - Missense 19:40583431-40583431 + STC252 COSM5056666 c.1522G>T p.V508L Substitution - Missense 19:40589111-40589111 + ESO-0459 COSM1265537 c.916A>T p.T306S Substitution - Missense 19:40582422-40582422 + I2L-P10-Tumor-Organoid COSM5364820 c.353G>A p.R118Q Substitution - Missense 19:40578495-40578495 + TCGA-D5-6928-01 COSM1393842 c.1192G>A p.A398T Substitution - Missense 19:40586800-40586800 + LAU63 COSM233354 c.976C>T p.P326S Substitution - Missense 19:40583413-40583413 + HCC38 COSM1612272 c.1454C>G p.A485G Substitution - Missense 19:40588741-40588741 + TCGA-FW-A3R5-06 COSM3892603 c.443C>T p.P148L Substitution - Missense 19:40580366-40580366 + TCGA-37-4141-01 COSM712856 c.562G>A p.G188R Substitution - Missense 19:40580485-40580485 + KM12 COSM1681042 c.1219C>T p.R407W Substitution - Missense 19:40586827-40586827 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.26454;Hs.26479;Hs.26506 19q13.2 2427971|CGAP|BC022855|C/G|non-coding||2306|Validated; 2427972|CGAP|BC022855|C/T|non-coding||2290|Candidate; 1517592|dbSNP|BC022855|A/C|non-coding||2276|Validated

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A G Missense p.N638S c.1913A>G 19 41096902 GBM A G Synonymous p.G51G c.153A>G 19 41083314 CM A T Missense p.T306S c.916A>T 19 41088328 ESCA C A Synonymous p.A635A c.1905C>A 19 41096894 LUAD C A Synonymous p.I40I c.120C>A 19 41083170 GBM C G Synonymous p.T211T c.633C>G 19 41086542 BRCA C T IntronicSNV . c.319+16C>T 19 41084134 NSCLC C T Missense p.A448V c.1343C>T 19 41094536 BLCA C T Missense p.L364F c.1090C>T 19 41089548 CM C T Missense p.P166L c.497C>T 19 41086326 CM C T Missense p.P184S c.550C>T 19 41086379 CM C T Missense p.P289L c.866C>T 19 41088278 CM C T Missense p.R559W c.1675C>T 19 41096235 CM C T Synonymous p.A581A c.1743C>T 19 41096303 BLCA C T Synonymous p.G276G c.828C>T 19 41086826 STAD C T Synonymous p.G405G c.1215C>T 19 41092729 CM C T Synonymous p.I238I c.714C>T 19 41086712 CM C T Synonymous p.I238I c.714C>T 19 41086712 STAD C T Synonymous p.L363L c.1089C>T 19 41089547 CM C T Synonymous p.L585L c.1755C>T 19 41096315 CM C T Synonymous p.P515P c.1545C>T 19 41095040 CM C T Synonymous p.P541P c.1623C>T 19 41096183 CM C T Synonymous p.P698P c.2094C>T 19 41097083 LUSC C T Synonymous p.R197R c.591C>T 19 41086500 UCEC C T Synonymous p.Y500Y c.1500C>T 19 41094995 OV G A Missense p.A493T c.1477G>A 19 41094670 STAD G A Missense p.G188R c.562G>A 19 41086391 LUSC G A Missense p.G264S c.790G>A 19 41086788 LUSC G A Missense p.G470S c.1408G>A 19 41094601 RCCC G A Missense p.G490S c.1468G>A 19 41094661 PAAD G A Missense p.V453M c.1357G>A 19 41094550 CM G C Missense p.G344A c.1031G>C 19 41089374 OV G C Missense p.Q424H c.1272G>C 19 41092786 UCEC G C Missense p.S572T c.1715G>C 19 41096275 CM GGATC - Frameshift p.W205Cfs*48 c.615_619delGATCG 19 41086523 HNSC G T Missense p.E414D c.1242G>T 19 41092756 BRCA G T Missense p.S231I c.692G>T 19 41086690 LUAD G T Missense p.S647I c.1940G>T 19 41096929 ESCA G T SpliceAcceptorSNV . c.141-1G>T 19 41083301 LUSC G T Synonymous p.R672R c.2016G>T 19 41097005 SCLC T C Missense p.F44S c.131T>C 19 41083181 ESCA